A38T (p.Ala38Thr) variant of PINK1 (Q9BXM7)
A38T (p.Ala38Thr) in PINK1 (Q9BXM7) 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 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
A38T (p.Ala38Thr) variant details
- p.Ala38Thr
- rs1355118616
- ClinGen CA338853534
- ClinVar RCV003318294
- ClinVar RCV004333277
- Uncertain significance
- not provided; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.251
- REVEL 0.17
- CADD 18.60
- PolyPhen-2 0.02
- SIFT 0.19
- 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 2.4e-05)
- Structural context available
- 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)