S95P (p.Ser95Pro) variant of ABCA4 (P78363)
S95P (p.Ser95Pro) in ABCA4 (P78363) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data and structural context.
S95P (p.Ser95Pro) variant details
- p.Ser95Pro
- TOPMed rs1312265858
- gnomAD rs1312265858
- Missense
- Variant Prioritization Score for Impact Estimate 0.759
- REVEL 0.80
- MetaLR 0.95
- MetaSVM 1.08
- CADD 24.70
- PolyPhen-2 0.44
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available