A91T (p.Ala91Thr) variant of PRKN (O60260)
A91T (p.Ala91Thr) in PRKN (O60260) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of 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.
A91T (p.Ala91Thr) variant details
- p.Ala91Thr
- rs552077922
- ClinGen CA4090431
- NCI-TCGA Cosmic COSV5822
- ClinVar RCV004515245
- Likely benign
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.238
- REVEL 0.34
- MetaLR 0.22
- MetaSVM -0.69
- CADD 0.00
- PolyPhen-2 0.00
- SIFT 0.85
- ClinVar: Likely benign (Inborn genetic diseases)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:STU population (allele frequency 0.0051)
- 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)