L8M (p.Leu8Met) variant of USH2A (Usherin)
L8M (p.Leu8Met) 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 0.03 / 1. The record also includes population frequency data and structural context.
L8M (p.Leu8Met) variant details
- p.Leu8Met
- rs778803503
- ClinGen CA1396869
- ClinVar RCV003121415
- ExAC rs778803503
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.0283
- REVEL 0.01
- CADD 0.10
- PolyPhen-2 0.05
- SIFT 0.06
- ClinVar: Uncertain significance (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available