L100P (p.Leu100Pro) variant of USH2A (Usherin)
L100P (p.Leu100Pro) in USH2A (Usherin) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
L100P (p.Leu100Pro) variant details
- p.Leu100Pro
- rs1558082163
- ClinGen CA344904266
- ClinVar RCV000733244
- Ensembl rs1558082163
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.384
- REVEL 0.30
- AlphaMissense 0.33
- MetaLR 0.18
- MetaSVM -0.77
- CADD 24.30
- PolyPhen-2 1.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available