L37R (p.Leu37Arg) variant of GJA5 (Gap junction alpha-5 protein)
L37R (p.Leu37Arg) in GJA5 (Gap junction alpha-5 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.
L37R (p.Leu37Arg) variant details
- p.Leu37Arg
- gnomAD rs1553227090
- Missense
- Variant Prioritization Score for Impact Estimate 0.746
- MetaLR 0.99
- MetaSVM 1.02
- CADD 28.10
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)