V42L (p.Val42Leu) variant of RRAD (GTP-binding protein RAD)
V42L (p.Val42Leu) in RRAD (GTP-binding protein RAD) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
V42L (p.Val42Leu) variant details
- p.Val42Leu
- 1000Genomes rs1471291692
- TOPMed rs1471291692
- gnomAD rs1471291692
- Missense
- Variant Prioritization Score for Impact Estimate 0.379
- REVEL 0.19
- ESM-1b 0.00
- AlphaMissense 0.30
- CADD 24.30
- PolyPhen-2 0.96
- SIFT 0.45
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available