A73T (p.Ala73Thr) variant of NPPA (Natriuretic peptides A)
A73T (p.Ala73Thr) 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 not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
A73T (p.Ala73Thr) variant details
- p.Ala73Thr
- rs2523211410
- ClinGen CA338451073
- ClinVar RCV002281801
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.17
- REVEL 0.07
- CADD 14.10
- PolyPhen-2 0.06
- SIFT 0.24
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available