S41T (p.Ser41Thr) variant of RPE65 (Retinoid isomerohydrolase)
S41T (p.Ser41Thr) in RPE65 (Retinoid isomerohydrolase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data and structural context.
S41T (p.Ser41Thr) variant details
- p.Ser41Thr
- ExAC rs756508097
- gnomAD rs756508097
- Missense
- Variant Prioritization Score for Impact Estimate 0.694
- REVEL 0.68
- MetaLR 0.66
- MetaSVM 0.21
- CADD 23.40
- PolyPhen-2 0.59
- SIFT 0.14
- Most common in the REMAINING population (allele frequency 5e-05)
- Structural context available