S69I (p.Ser69Ile) variant of USH2A (Usherin)
S69I (p.Ser69Ile) 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 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
S69I (p.Ser69Ile) variant details
- p.Ser69Ile
- rs377254440
- ClinGen CA1396838
- ClinVar RCV000667934
- ClinVar RCV001844213
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.254
- REVEL 0.16
- CADD 23.00
- PolyPhen-2 0.83
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00025)
- Structural context available
- Cited in: Nonsyndromic Retinitis Pigmentosa Overview. (PMID 20301590)
- Cited in: Usher Syndrome Type II. (PMID 20301515)