G71D (p.Gly71Asp) variant of GNAT1 (P11488)
G71D (p.Gly71Asp) in GNAT1 (P11488) 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 0.71 / 1. The record also includes population frequency data and structural context.
G71D (p.Gly71Asp) variant details
- p.Gly71Asp
- NCI-TCGA Cosmic COSV9913
- cosmic curated COSV99138
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.714
- REVEL 0.68
- CADD 26.90
- PolyPhen-2 0.51
- SIFT 0.04
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available