M20T (p.Met20Thr) variant of PLN (Phospholamban)
M20T (p.Met20Thr) in PLN (Phospholamban) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
M20T (p.Met20Thr) variant details
- p.Met20Thr
- gnomAD 6-118558980-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.478
- REVEL 0.42
- MetaLR 0.43
- MetaSVM -0.28
- CADD 23.60
- PolyPhen-2 0.02
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available