S201Y (p.Ser201Tyr) variant of GJA1 (Gap junction alpha-1 protein)
S201Y (p.Ser201Tyr) in GJA1 (Gap junction alpha-1 protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Oculodentodigital dysplasia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes structural context.
S201Y (p.Ser201Tyr) variant details
- p.Ser201Tyr
- rs2114283819
- ClinGen CA365559382
- ClinVar RCV001542655
- Ensembl rs2114283819
- Likely pathogenic
- Oculodentodigital dysplasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.971
- AlphaMissense 0.99
- MetaLR 0.98
- MetaSVM 1.07
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.99
- ClinVar: Likely pathogenic (Oculodentodigital dysplasia)
- EBI: Likely pathogenic (in ODDD)
- UniProt: Likely pathogenic (in ODDD)
- Structural context available