S76P (p.Ser76Pro) variant of RLBP1 (Retinaldehyde-binding protein 1)
S76P (p.Ser76Pro) in RLBP1 (Retinaldehyde-binding protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
S76P (p.Ser76Pro) variant details
- p.Ser76Pro
- ExAC rs778384712
- gnomAD rs778384712
- Missense
- Variant Prioritization Score for Impact Estimate 0.169
- REVEL 0.16
- CADD 10.30
- PolyPhen-2 0.03
- SIFT 0.25
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available