N105T (p.Asn105Thr) variant of GABRB3 (P28472)
N105T (p.Asn105Thr) 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 0.49 / 1. The record also includes population frequency data and structural context.
N105T (p.Asn105Thr) variant details
- p.Asn105Thr
- NCI-TCGA Cosmic COSV1001
- cosmic curated COSV10015
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.492
- REVEL 0.41
- CADD 23.10
- PolyPhen-2 0.40
- SIFT 0.16
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available