R24K (p.Arg24Lys) variant of NPPA (Natriuretic peptides A)
R24K (p.Arg24Lys) in NPPA (Natriuretic peptides A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data and published literature.
R24K (p.Arg24Lys) variant details
- p.Arg24Lys
- gnomAD 1-11847614-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.108
- REVEL 0.07
- CADD 1.28
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Literature evidence available