L20F (p.Leu20Phe) variant of USH2A (Usherin)
L20F (p.Leu20Phe) 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 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
L20F (p.Leu20Phe) variant details
- p.Leu20Phe
- rs767611127
- ClinGen CA344905104
- ClinVar RCV002051240
- ClinVar RCV005606976
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.15
- REVEL 0.06
- CADD 7.48
- PolyPhen-2 0.01
- SIFT 0.08
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Usher Syndrome Type II. (PMID 20301515)
- Cited in: Clinical utility gene card for: Usher syndrome. (PMID 21697857)