P132A (p.Pro132Ala) variant of MYH6 (Myosin-6)
P132A (p.Pro132Ala) in MYH6 (Myosin-6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data and structural context.
P132A (p.Pro132Ala) variant details
- p.Pro132Ala
- gnomAD rs1278525766
- Missense
- Variant Prioritization Score for Impact Estimate 0.751
- REVEL 0.75
- CADD 24.20
- PolyPhen-2 0.84
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available