P12S (p.Pro12Ser) variant of RLBP1 (Retinaldehyde-binding protein 1)
P12S (p.Pro12Ser) in RLBP1 (Retinaldehyde-binding protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
P12S (p.Pro12Ser) variant details
- p.Pro12Ser
- Ensembl rs1390498593
- Missense
- Variant Prioritization Score for Impact Estimate 0.426
- REVEL 0.32
- CADD 12.40
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available