R6Q (p.Arg6Gln) variant of CDH1 (Cadherin-1)
R6Q (p.Arg6Gln) in CDH1 (Cadherin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
R6Q (p.Arg6Gln) variant details
- p.Arg6Gln
- rs951021097
- gnomAD 19-3523009-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.36
- REVEL 0.13
- MetaLR 0.14
- MetaSVM -0.83
- CADD 24.50
- PolyPhen-2 0.14
- SIFT 0.11
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available
- Literature evidence available