P66T (p.Pro66Thr) variant of NPPA (Natriuretic peptides A)
P66T (p.Pro66Thr) in NPPA (Natriuretic peptides A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Atrial fibrillation, familial, 6. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
P66T (p.Pro66Thr) variant details
- p.Pro66Thr
- rs201250969
- ClinGen CA597064
- ClinVar RCV003067923
- ExAC rs201250969
- Likely benign
- Atrial fibrillation, familial, 6
- Missense
- Variant Prioritization Score for Impact Estimate 0.295
- REVEL 0.10
- CADD 15.90
- PolyPhen-2 0.00
- SIFT 0.20
- ClinVar: Likely benign (Atrial fibrillation, familial, 6)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available