M20I (p.Met20Ile) variant of PLN (Phospholamban)
M20I (p.Met20Ile) in PLN (Phospholamban) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
M20I (p.Met20Ile) variant details
- p.Met20Ile
- gnomAD 6-118558981-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.415
- REVEL 0.30
- MetaLR 0.32
- MetaSVM -0.60
- CADD 21.00
- PolyPhen-2 0.00
- SIFT 0.20
- Population evidence available
- Structural context available
- Literature evidence available