S95T (p.Ser95Thr) variant of ABCA4 (P78363)
S95T (p.Ser95Thr) in ABCA4 (P78363) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data and structural context.
S95T (p.Ser95Thr) variant details
- p.Ser95Thr
- TOPMed rs1312265858
- gnomAD rs1312265858
- Missense
- Variant Prioritization Score for Impact Estimate 0.685
- REVEL 0.64
- MetaLR 0.95
- MetaSVM 1.06
- CADD 24.00
- PolyPhen-2 0.78
- SIFT 0.02
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available