P27R (p.Pro27Arg) variant of NPPA (Natriuretic peptides A)
P27R (p.Pro27Arg) in NPPA (Natriuretic peptides A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data.
P27R (p.Pro27Arg) variant details
- p.Pro27Arg
- cosmic curated COSV56741
- ExAC rs746272754
- gnomAD rs746272754
- Missense
- Variant Prioritization Score for Impact Estimate 0.631
- REVEL 0.54
- CADD 23.80
- PolyPhen-2 1.00
- SIFT 0.04
- Most common in the 1KG:CLM population (allele frequency 0.0053)