A8V (p.Ala8Val) variant of NPR1 (P16066)
A8V (p.Ala8Val) in NPR1 (P16066) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
A8V (p.Ala8Val) variant details
- p.Ala8Val
- gnomAD 1-153679131-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.222
- REVEL 0.20
- CADD 11.10
- PolyPhen-2 0.00
- SIFT 0.63
- Population evidence available
- Structural context available
- Literature evidence available