T19S (p.Thr19Ser) variant of GJA1 (Gap junction alpha-1 protein)
T19S (p.Thr19Ser) in GJA1 (Gap junction alpha-1 protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
T19S (p.Thr19Ser) variant details
- p.Thr19Ser
- gnomAD 6-121446903-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.751
- REVEL 0.91
- MetaLR 0.98
- MetaSVM 1.04
- CADD 24.60
- PolyPhen-2 0.90
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available