V63G (p.Val63Gly) variant of RLBP1 (Retinaldehyde-binding protein 1)
V63G (p.Val63Gly) in RLBP1 (Retinaldehyde-binding protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data and structural context.
V63G (p.Val63Gly) variant details
- p.Val63Gly
- TOPMed rs1219949432
- gnomAD rs1219949432
- Missense
- Variant Prioritization Score for Impact Estimate 0.756
- REVEL 0.84
- CADD 25.80
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available