I70T (p.Ile70Thr) variant of MYL2 (P10916)
I70T (p.Ile70Thr) in MYL2 (P10916) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
I70T (p.Ile70Thr) variant details
- p.Ile70Thr
- gnomAD 12-110914251-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.495
- REVEL 0.44
- MetaLR 0.53
- MetaSVM -0.01
- CADD 23.90
- PolyPhen-2 0.07
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available