T120M (p.Thr120Met) variant of EYS (Protein eyes shut homolog)
T120M (p.Thr120Met) in EYS (Protein eyes shut homolog) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of not specified; Retinal dystrophy; Retinitis pigmentosa. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data and published literature.
T120M (p.Thr120Met) variant details
- p.Thr120Met
- rs12193967
- ClinGen CA3878088
- ClinVar RCV001279313
- ClinVar RCV001871565
- Benign/Likely benign
- not specified; Retinal dystrophy; Retinitis pigmentosa
- Missense
- Variant Prioritization Score for Impact Estimate 0.0988
- REVEL 0.13
- CADD 1.48
- PolyPhen-2 0.03
- SIFT 0.09
- ClinVar: Benign/Likely benign (not specified; Retinal dystrophy; Retinitis pigmentosa)
- EBI: Benign (in dbSNP:rs12193967)
- UniProt: Benign (in dbSNP:rs12193967)
- Population evidence available
- Cited in: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID 15489334)
- Cited in: EYS is a major gene for rod-cone dystrophies in France. (PMID 20333770)