V29A (p.Val29Ala) variant of MUSK (O15146)
V29A (p.Val29Ala) in MUSK (O15146) 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 0.33 / 1. The record also includes population frequency data and structural context.
V29A (p.Val29Ala) variant details
- p.Val29Ala
- rs748900538
- NCI-TCGA Cosmic COSV5188
- cosmic curated COSV51885
- ExAC rs748900538
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.328
- REVEL 0.15
- MetaLR 0.19
- MetaSVM -0.86
- CADD 22.40
- PolyPhen-2 0.09
- SIFT 0.48
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available