L120V (p.Leu120Val) variant of MYH11 (Myosin-11)
L120V (p.Leu120Val) in MYH11 (Myosin-11) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data and structural context.
L120V (p.Leu120Val) variant details
- p.Leu120Val
- ExAC rs766831176
- gnomAD rs766831176
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.815
- REVEL 0.86
- CADD 26.10
- PolyPhen-2 0.56
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.2e-05)
- Structural context available