E65K (p.Glu65Lys) variant of NPPA (Natriuretic peptides A)
E65K (p.Glu65Lys) in NPPA (Natriuretic peptides A) 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.
E65K (p.Glu65Lys) variant details
- p.Glu65Lys
- gnomAD 1-11847370-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.416
- REVEL 0.24
- CADD 23.70
- PolyPhen-2 0.45
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available