A91V (p.Ala91Val) variant of PRKN (O60260)
A91V (p.Ala91Val) in PRKN (O60260) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
A91V (p.Ala91Val) variant details
- p.Ala91Val
- rs528661586
- ClinGen CA4090430
- cosmic curated COSV58208
- ClinVar RCV002020317
- Uncertain significance
- not provided; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.241
- REVEL 0.16
- MetaLR 0.41
- MetaSVM -0.69
- CADD 9.06
- PolyPhen-2 0.00
- SIFT 0.46
- ClinVar: Uncertain significance (not provided; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 9.7e-05)
- Structural context available
- Parkin (PRKN) cellular abundance: score 0.979
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)