V99E (p.Val99Glu) variant of GJA1 (Gap junction alpha-1 protein)
V99E (p.Val99Glu) 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 0.77 / 1. The record also includes structural context.
V99E (p.Val99Glu) variant details
- p.Val99Glu
- rs1554201009
- ClinGen CA365558586
- ClinVar RCV000536865
- Ensembl rs1554201009
- Uncertain significance
- Oculodentodigital dysplasia, autosomal recessive
- Missense
- Variant Prioritization Score for Impact Estimate 0.774
- AlphaMissense 0.85
- MetaLR 0.95
- MetaSVM 1.11
- PolyPhen-2 0.97
- SIFT 0.00
- EVE 0.27
- ClinVar: Uncertain significance (Oculodentodigital dysplasia, autosomal recessive)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available