G18R (p.Gly18Arg) variant of ANKRD1 (Q15327)
G18R (p.Gly18Arg) in ANKRD1 (Q15327) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
G18R (p.Gly18Arg) variant details
- p.Gly18Arg
- ExAC rs778081649
- gnomAD rs778081649
- Missense
- Variant Prioritization Score for Impact Estimate 0.236
- REVEL 0.07
- CADD 15.10
- PolyPhen-2 0.00
- SIFT 0.31
- Most common in the HGDP:MAKRANI population (allele frequency 0.045)
- Structural context available