Q49L (p.Gln49Leu) variant of GJA1 (Gap junction alpha-1 protein)
Q49L (p.Gln49Leu) in GJA1 (Gap junction alpha-1 protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
Q49L (p.Gln49Leu) variant details
- p.Gln49Leu
- gnomAD 6-121446993-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.802
- REVEL 0.96
- MetaLR 0.98
- MetaSVM 1.05
- CADD 27.70
- PolyPhen-2 0.97
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available