S31F (p.Ser31Phe) variant of CEP290 (Centrosomal protein of 290 kDa)
S31F (p.Ser31Phe) in CEP290 (Centrosomal protein of 290 kDa) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Leber congenital amaurosis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes structural context.
S31F (p.Ser31Phe) variant details
- p.Ser31Phe
- rs1378106199
- ClinGen CA385990127
- ClinVar RCV001279938
- gnomAD rs1378106199
- Uncertain significance
- Leber congenital amaurosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.429
- AlphaMissense 0.12
- MetaLR 0.41
- MetaSVM -0.58
- PolyPhen-2 0.83
- SIFT 0.03
- EVE 0.26
- ClinVar: Uncertain significance (Leber congenital amaurosis)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available