A38V (p.Ala38Val) variant of NPR1 (P16066)
A38V (p.Ala38Val) in NPR1 (P16066) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
A38V (p.Ala38Val) variant details
- p.Ala38Val
- gnomAD rs1400441329
- Missense
- Variant Prioritization Score for Impact Estimate 0.597
- REVEL 0.52
- CADD 23.10
- PolyPhen-2 0.29
- SIFT 0.01
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available