W36R (p.Trp36Arg) variant of ACTN2 (Alpha-actinin-2)
W36R (p.Trp36Arg) in ACTN2 (Alpha-actinin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
W36R (p.Trp36Arg) variant details
- p.Trp36Arg
- gnomAD 1-236686779-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.509
- REVEL 0.48
- CADD 31.00
- PolyPhen-2 0.03
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available