V39L (p.Val39Leu) variant of MYH7 (Myosin-7)
V39L (p.Val39Leu) in MYH7 (Myosin-7) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact in the context of in CMH1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data and structural context.
V39L (p.Val39Leu) variant details
- p.Val39Leu
- NCI-TCGA Cosmic COSV1008
- Variant assessed as somatic; moderate impact.
- in CMH1
- Missense
- Variant Prioritization Score for Impact Estimate 0.712
- REVEL 0.68
- CADD 23.90
- PolyPhen-2 0.39
- SIFT 0.02
- UniProt: Variant assessed as somatic; moderate impact. (in CMH1)
- Most common in the South Asian population (allele frequency 0.00044)
- Structural context available