D50G (p.Asp50Gly) variant of RLBP1 (Retinaldehyde-binding protein 1)
D50G (p.Asp50Gly) in RLBP1 (Retinaldehyde-binding protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
D50G (p.Asp50Gly) variant details
- p.Asp50Gly
- ExAC rs754605689
- gnomAD rs754605689
- Missense
- Variant Prioritization Score for Impact Estimate 0.648
- REVEL 0.69
- CADD 31.00
- PolyPhen-2 0.97
- SIFT 0.12
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available