Y117N (p.Tyr117Asn) variant of MYH6 (Myosin-6)
Y117N (p.Tyr117Asn) in MYH6 (Myosin-6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data and structural context.
Y117N (p.Tyr117Asn) variant details
- p.Tyr117Asn
- gnomAD rs1478881834
- Missense
- Variant Prioritization Score for Impact Estimate 0.793
- REVEL 0.89
- CADD 28.90
- PolyPhen-2 0.96
- SIFT 0.01
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available