G71E (p.Gly71Glu) variant of NPPA (Natriuretic peptides A)
G71E (p.Gly71Glu) in NPPA (Natriuretic peptides A) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
G71E (p.Gly71Glu) variant details
- p.Gly71Glu
- NCI-TCGA Cosmic COSV5674
- cosmic curated COSV56742
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.152
- REVEL 0.09
- CADD 13.00
- PolyPhen-2 0.34
- SIFT 0.21
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available