S76T (p.Ser76Thr) variant of RLBP1 (Retinaldehyde-binding protein 1)
S76T (p.Ser76Thr) in RLBP1 (Retinaldehyde-binding protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data and structural context.
S76T (p.Ser76Thr) variant details
- p.Ser76Thr
- ExAC rs778384712
- gnomAD rs778384712
- Missense
- Variant Prioritization Score for Impact Estimate 0.132
- REVEL 0.12
- CADD 4.39
- PolyPhen-2 0.00
- SIFT 0.63
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available