S93N (p.Ser93Asn) variant of RLBP1 (Retinaldehyde-binding protein 1)
S93N (p.Ser93Asn) in RLBP1 (Retinaldehyde-binding protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
S93N (p.Ser93Asn) variant details
- p.Ser93Asn
- ExAC rs748652735
- gnomAD rs748652735
- Missense
- Variant Prioritization Score for Impact Estimate 0.205
- REVEL 0.24
- CADD 4.61
- PolyPhen-2 0.00
- SIFT 0.09
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available