S16I (p.Ser16Ile) variant of EYS (Protein eyes shut homolog)
S16I (p.Ser16Ile) in EYS (Protein eyes shut homolog) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and published literature.
S16I (p.Ser16Ile) variant details
- p.Ser16Ile
- rs755010017
- ClinGen CA3878140
- NCI-TCGA Cosmic COSV6099
- cosmic curated COSV60998
- Uncertain significance
- not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.207
- REVEL 0.25
- CADD 12.50
- PolyPhen-2 0.01
- SIFT 0.08
- ClinVar: Uncertain significance (not specified; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Cited in: Nonsyndromic Retinitis Pigmentosa Overview. (PMID 20301590)