F78L (p.Phe78Leu) variant of USH2A (Usherin)
F78L (p.Phe78Leu) 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 0.09 / 1. The record also includes population frequency data and structural context.
F78L (p.Phe78Leu) variant details
- p.Phe78Leu
- gnomAD rs1165607839
- NCI-TCGA Cosmic COSV5632
- cosmic curated COSV56326
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.0916
- REVEL 0.06
- CADD 8.47
- PolyPhen-2 0.00
- SIFT 0.68
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available