I28V (p.Ile28Val) variant of USH2A (Usherin)
I28V (p.Ile28Val) 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 0.04 / 1. The record also includes population frequency data, published literature, and structural context.
I28V (p.Ile28Val) variant details
- p.Ile28Val
- rs753515909
- ClinGen CA1396858
- ClinVar RCV001305273
- ClinVar RCV001835477
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.0359
- REVEL 0.02
- CADD 0.00
- PolyPhen-2 0.00
- SIFT 0.61
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.6e-05)
- Structural context available
- Cited in: Nonsyndromic Retinitis Pigmentosa Overview. (PMID 20301590)
- Cited in: Usher Syndrome Type II. (PMID 20301515)