S86T (p.Ser86Thr) variant of GJA1 (Gap junction alpha-1 protein)
S86T (p.Ser86Thr) in GJA1 (Gap junction alpha-1 protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Oculodentodigital dysplasia, autosomal recessive. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes structural context.
S86T (p.Ser86Thr) variant details
- p.Ser86Thr
- rs2114283193
- ClinGen CA365558426
- ClinVar RCV001995455
- Ensembl rs2114283193
- Uncertain significance
- Oculodentodigital dysplasia, autosomal recessive
- Missense
- Variant Prioritization Score for Impact Estimate 0.777
- AlphaMissense 0.63
- MetaLR 0.96
- MetaSVM 1.11
- PolyPhen-2 0.93
- SIFT 0.00
- EVE 0.38
- ClinVar: Uncertain significance (Oculodentodigital dysplasia, autosomal recessive)
- EBI: Variant of uncertain significance (in ODDD)
- UniProt: Uncertain significance (in ODDD)
- Structural context available