F78V (p.Phe78Val) variant of USH2A (Usherin)
F78V (p.Phe78Val) in USH2A (Usherin) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.06 / 1. The record also includes population frequency data, published literature, and structural context.
F78V (p.Phe78Val) variant details
- p.Phe78Val
- rs775094277
- ClinGen CA1396832
- ClinVar RCV000674232
- ClinVar RCV001300495
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.0599
- REVEL 0.01
- CADD 9.20
- PolyPhen-2 0.00
- SIFT 0.51
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- Cited in: Nonsyndromic Retinitis Pigmentosa Overview. (PMID 20301590)
- Cited in: Usher Syndrome Type II. (PMID 20301515)