D30N (p.Asp30Asn) variant of GABRB3 (P28472)
D30N (p.Asp30Asn) in GABRB3 (P28472) 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 0.40 / 1. The record also includes population frequency data and structural context.
D30N (p.Asp30Asn) variant details
- p.Asp30Asn
- NCI-TCGA Cosmic COSV1001
- cosmic curated COSV10016
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.396
- REVEL 0.21
- CADD 22.90
- PolyPhen-2 0.03
- SIFT 0.08
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 3.5e-05)
- Structural context available