T8N (p.Thr8Asn) variant of NPPA (Natriuretic peptides A)
T8N (p.Thr8Asn) in NPPA (Natriuretic peptides A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data and published literature.
T8N (p.Thr8Asn) variant details
- p.Thr8Asn
- gnomAD 1-11847662-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.131
- REVEL 0.05
- CADD 1.23
- PolyPhen-2 0.03
- SIFT 0.09
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Literature evidence available