K41N (p.Lys41Asn) variant of NPPA (Natriuretic peptides A)
K41N (p.Lys41Asn) in NPPA (Natriuretic peptides A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Atrial fibrillation, familial, 6. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data.
K41N (p.Lys41Asn) variant details
- p.Lys41Asn
- rs147962789
- ClinGen CA597101
- ClinVar RCV001964783
- ESP rs147962789
- Uncertain significance
- Atrial fibrillation, familial, 6
- Missense
- Variant Prioritization Score for Impact Estimate 0.577
- REVEL 0.38
- CADD 33.00
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (Atrial fibrillation, familial, 6)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00041)