A38V (p.Ala38Val) variant of SLC6A1 (P30531)
A38V (p.Ala38Val) in SLC6A1 (P30531) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
A38V (p.Ala38Val) variant details
- p.Ala38Val
- NCI-TCGA Cosmic COSV5511
- cosmic curated COSV55113
- TOPMed rs1697192237
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.211
- REVEL 0.10
- CADD 16.60
- PolyPhen-2 0.00
- SIFT 0.20
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available