G6D (p.Gly6Asp) variant of RLBP1 (Retinaldehyde-binding protein 1)
G6D (p.Gly6Asp) in RLBP1 (Retinaldehyde-binding protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
G6D (p.Gly6Asp) variant details
- p.Gly6Asp
- gnomAD rs1170700714
- Missense
- Variant Prioritization Score for Impact Estimate 0.615
- REVEL 0.51
- CADD 23.30
- PolyPhen-2 1.00
- SIFT 0.09
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available