L100F (p.Leu100Phe) variant of USH2A (Usherin)
L100F (p.Leu100Phe) in USH2A (Usherin) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
L100F (p.Leu100Phe) variant details
- p.Leu100Phe
- rs1425614240
- NCI-TCGA Cosmic COSV5639
- cosmic curated COSV56391
- TOPMed rs1425614240
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.281
- REVEL 0.13
- CADD 23.70
- PolyPhen-2 1.00
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available