G76V (p.Gly76Val) variant of POT1 (Q9NUX5)
G76V (p.Gly76Val) in POT1 (Q9NUX5) 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 0.70 / 1. The record also includes population frequency data and structural context.
G76V (p.Gly76Val) variant details
- p.Gly76Val
- NCI-TCGA Cosmic COSV6293
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.703
- REVEL 0.60
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available