C88W (p.Cys88Trp) variant of USH2A (Usherin)
C88W (p.Cys88Trp) 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 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
C88W (p.Cys88Trp) variant details
- p.Cys88Trp
- rs368798834
- ClinGen CA143444
- ClinVar RCV000041815
- ClinVar RCV000666896
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.29
- REVEL 0.36
- CADD 16.90
- PolyPhen-2 1.00
- SIFT 0.00
- 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)