V5M (p.Val5Met) variant of RLBP1 (Retinaldehyde-binding protein 1)
V5M (p.Val5Met) in RLBP1 (Retinaldehyde-binding protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
V5M (p.Val5Met) variant details
- p.Val5Met
- TOPMed rs1463943553
- gnomAD rs1463943553
- Missense
- Variant Prioritization Score for Impact Estimate 0.36
- REVEL 0.28
- CADD 23.50
- PolyPhen-2 0.12
- SIFT 0.01
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available