P81S (p.Pro81Ser) variant of MYH6 (Myosin-6)
P81S (p.Pro81Ser) in MYH6 (Myosin-6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data and structural context.
P81S (p.Pro81Ser) variant details
- p.Pro81Ser
- TOPMed rs1448176145
- gnomAD rs1448176145
- Missense
- Variant Prioritization Score for Impact Estimate 0.777
- REVEL 0.78
- CADD 27.20
- PolyPhen-2 0.94
- SIFT 0.02
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available