F31L (p.Phe31Leu) variant of MYH6 (Myosin-6)
F31L (p.Phe31Leu) in MYH6 (Myosin-6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
F31L (p.Phe31Leu) variant details
- p.Phe31Leu
- 1000Genomes rs200657398
- ExAC rs200657398
- gnomAD rs200657398
- Missense
- Variant Prioritization Score for Impact Estimate 0.364
- REVEL 0.52
- CADD 12.90
- PolyPhen-2 0.25
- SIFT 0.01
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available