P76A (p.Pro76Ala) variant of MYL2 (P10916)
P76A (p.Pro76Ala) in MYL2 (P10916) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
P76A (p.Pro76Ala) variant details
- p.Pro76Ala
- TOPMed rs1193986376
- gnomAD rs1193986376
- Missense
- Variant Prioritization Score for Impact Estimate 0.563
- REVEL 0.53
- CADD 22.10
- PolyPhen-2 0.01
- SIFT 0.08
- Population evidence available
- Structural context available