A7V (p.Ala7Val) variant of GNAT1 (P11488)
A7V (p.Ala7Val) in GNAT1 (P11488) 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 0.42 / 1. The record also includes population frequency data and structural context.
A7V (p.Ala7Val) variant details
- p.Ala7Val
- rs1293986442
- NCI-TCGA Cosmic COSV5002
- cosmic curated COSV50029
- gnomAD rs1293986442
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.422
- AlphaMissense 0.10
- MetaLR 0.52
- MetaSVM -0.21
- PolyPhen-2 0.00
- SIFT 0.03
- EVE 0.19
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available