A41S (p.Ala41Ser) variant of GJA5 (Gap junction alpha-5 protein)
A41S (p.Ala41Ser) in GJA5 (Gap junction alpha-5 protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data.
A41S (p.Ala41Ser) variant details
- p.Ala41Ser
- TOPMed rs1663885348
- gnomAD rs1663885348
- Missense
- Variant Prioritization Score for Impact Estimate 0.813
- MetaLR 0.98
- MetaSVM 1.06
- CADD 24.30
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)