H68L (p.His68Leu) variant of USH2A (Usherin)
H68L (p.His68Leu) in USH2A (Usherin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes structural context.
H68L (p.His68Leu) variant details
- p.His68Leu
- rs765666540
- ClinGen CA37922147
- NCI-TCGA Cosmic COSV1002
- cosmic curated COSV10024
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.307
- AlphaMissense 0.09
- MetaLR 0.05
- MetaSVM -1.06
- PolyPhen-2 0.41
- SIFT 0.22
- MutPred 0.37
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available