K50E (p.Lys50Glu) variant of NPPA (Natriuretic peptides A)
K50E (p.Lys50Glu) in NPPA (Natriuretic peptides A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
K50E (p.Lys50Glu) variant details
- p.Lys50Glu
- cosmic curated COSV10588
- ExAC rs774982462
- TOPMed rs774982462
- gnomAD rs774982462
- Missense
- Variant Prioritization Score for Impact Estimate 0.317
- REVEL 0.21
- CADD 24.00
- PolyPhen-2 0.37
- SIFT 0.08
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available