S64N (p.Ser64Asn) variant of NPPA (Natriuretic peptides A)
S64N (p.Ser64Asn) in NPPA (Natriuretic peptides A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.05 / 1. The record also includes population frequency data, published literature, and structural context.
S64N (p.Ser64Asn) variant details
- p.Ser64Asn
- gnomAD 1-11847372-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.0498
- REVEL 0.03
- CADD 0.20
- PolyPhen-2 0.00
- SIFT 0.76
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available