M41V (p.Met41Val) variant of ATP1A1 (P05023)
M41V (p.Met41Val) in ATP1A1 (P05023) 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 0.45 / 1. The record also includes population frequency data and structural context.
M41V (p.Met41Val) variant details
- p.Met41Val
- rs1384870128
- NCI-TCGA Cosmic COSV5519
- cosmic curated COSV55192
- gnomAD rs1384870128
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.446
- REVEL 0.39
- MetaLR 0.28
- MetaSVM -0.53
- CADD 21.40
- PolyPhen-2 0.00
- SIFT 0.03
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Latino/Admixed American population (allele frequency 0.00059)
- Structural context available