F31S (p.Phe31Ser) variant of MYH7 (Myosin-7)
F31S (p.Phe31Ser) in MYH7 (Myosin-7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data and structural context.
F31S (p.Phe31Ser) variant details
- p.Phe31Ser
- gnomAD rs1893038174
- Missense
- Variant Prioritization Score for Impact Estimate 0.797
- REVEL 0.90
- CADD 30.00
- PolyPhen-2 0.47
- SIFT 0.01
- Most common in the 1KG:GIH population (allele frequency 0.0053)
- Structural context available