A22V (p.Ala22Val) variant of LYST (Lysosomal-trafficking regulator)
A22V (p.Ala22Val) in LYST (Lysosomal-trafficking regulator) 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 0.56 / 1. The record also includes structural context.
A22V (p.Ala22Val) variant details
- p.Ala22Val
- rs1268630145
- NCI-TCGA Cosmic COSV6771
- cosmic curated COSV67713
- Ensembl rs1268630145
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.564
- AlphaMissense 0.23
- MetaLR 0.58
- MetaSVM 0.14
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.65
- UniProt: Variant assessed as somatic; moderate impact.
- Structural context available