V61I (p.Val61Ile) variant of GABRB3 (P28472)
V61I (p.Val61Ile) 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 0.54 / 1. The record also includes population frequency data and structural context.
V61I (p.Val61Ile) variant details
- p.Val61Ile
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.537
- REVEL 0.42
- CADD 23.60
- PolyPhen-2 0.64
- SIFT 0.07
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available