A1345P (p.Ala1345Pro) variant of USH2A (Usherin)
A1345P (p.Ala1345Pro) in USH2A (Usherin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Autosomal recessive retinitis pigmentosa. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes structural context.
A1345P (p.Ala1345Pro) variant details
- p.Ala1345Pro
- rs2034900559
- ClinGen CA344866945
- ClinVar RCV001257906
- Ensembl rs2034900559
- Pathogenic
- Autosomal recessive retinitis pigmentosa
- Missense
- Variant Prioritization Score for Impact Estimate 0.602
- AlphaMissense 0.58
- MetaLR 0.51
- MetaSVM 0.20
- PolyPhen-2 1.00
- SIFT 0.03
- EVE 0.59
- ClinVar: Pathogenic (Autosomal recessive retinitis pigmentosa)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available