N30T (p.Asn30Thr) variant of NPPA (Natriuretic peptides A)
N30T (p.Asn30Thr) in NPPA (Natriuretic peptides A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data and published literature.
N30T (p.Asn30Thr) variant details
- p.Asn30Thr
- gnomAD 1-11847596-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.0903
- REVEL 0.04
- CADD 5.23
- PolyPhen-2 0.00
- SIFT 0.26
- Most common in the African/African-American population (allele frequency 0.00012)
- Literature evidence available