S18T (p.Ser18Thr) variant of GJA5 (Gap junction alpha-5 protein)
S18T (p.Ser18Thr) in GJA5 (Gap junction alpha-5 protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and published literature.
S18T (p.Ser18Thr) variant details
- p.Ser18Thr
- gnomAD 1-147759187-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.66
- MetaLR 0.99
- MetaSVM 1.02
- CADD 24.60
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Literature evidence available