K50T (p.Lys50Thr) variant of NPPA (Natriuretic peptides A)
K50T (p.Lys50Thr) in NPPA (Natriuretic peptides A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
K50T (p.Lys50Thr) variant details
- p.Lys50Thr
- gnomAD 1-11847414-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.339
- REVEL 0.25
- CADD 23.40
- PolyPhen-2 0.72
- SIFT 0.13
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available
- Literature evidence available