I4T (p.Ile4Thr) variant of ACTN2 (Alpha-actinin-2)
I4T (p.Ile4Thr) in ACTN2 (Alpha-actinin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
I4T (p.Ile4Thr) variant details
- p.Ile4Thr
- gnomAD 1-236686684-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.42
- REVEL 0.31
- CADD 23.00
- PolyPhen-2 0.01
- SIFT 0.16
- Population evidence available
- Structural context available
- Literature evidence available