I85V (p.Ile85Val) variant of USH2A (Usherin)
I85V (p.Ile85Val) in USH2A (Usherin) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.05 / 1. The record also includes population frequency data, published literature, and structural context.
I85V (p.Ile85Val) variant details
- p.Ile85Val
- rs770983063
- ClinGen CA1396828
- cosmic curated COSV56412
- ClinVar RCV000512791
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.0483
- REVEL 0.03
- CADD 0.00
- PolyPhen-2 0.00
- SIFT 1.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00035)
- Structural context available
- Cited in: Nonsyndromic Retinitis Pigmentosa Overview. (PMID 20301590)
- Cited in: Usher Syndrome Type II. (PMID 20301515)