L31P (p.Leu31Pro) variant of ACTN2 (Alpha-actinin-2)
L31P (p.Leu31Pro) in ACTN2 (Alpha-actinin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
L31P (p.Leu31Pro) variant details
- p.Leu31Pro
- gnomAD 1-236686765-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.475
- REVEL 0.39
- CADD 24.30
- PolyPhen-2 0.09
- SIFT 0.13
- Population evidence available
- Structural context available
- Literature evidence available