P52L (p.Pro52Leu) variant of NPPA (Natriuretic peptides A)
P52L (p.Pro52Leu) in NPPA (Natriuretic peptides A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
P52L (p.Pro52Leu) variant details
- p.Pro52Leu
- gnomAD 1-11847408-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.502
- REVEL 0.29
- CADD 26.50
- PolyPhen-2 1.00
- SIFT 0.26
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available
- Literature evidence available