L36F (p.Leu36Phe) variant of USH2A (Usherin)
L36F (p.Leu36Phe) 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 0.18 / 1. The record also includes population frequency data and structural context.
L36F (p.Leu36Phe) variant details
- p.Leu36Phe
- NCI-TCGA Cosmic COSV5643
- cosmic curated COSV56434
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.182
- REVEL 0.04
- CADD 18.60
- PolyPhen-2 0.38
- SIFT 0.11
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available