P6T (p.Pro6Thr) variant of ACTN2 (Alpha-actinin-2)
P6T (p.Pro6Thr) in ACTN2 (Alpha-actinin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
P6T (p.Pro6Thr) variant details
- p.Pro6Thr
- gnomAD 1-236686689-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.317
- REVEL 0.20
- CADD 19.70
- PolyPhen-2 0.00
- SIFT 0.51
- Population evidence available
- Structural context available
- Literature evidence available