V102G (p.Val102Gly) variant of RRAD (GTP-binding protein RAD)
V102G (p.Val102Gly) in RRAD (GTP-binding protein RAD) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data and structural context.
V102G (p.Val102Gly) variant details
- p.Val102Gly
- ExAC rs778860198
- TOPMed rs778860198
- gnomAD rs778860198
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.805
- REVEL 0.88
- ESM-1b 1.00
- AlphaMissense 0.79
- CADD 26.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available