Q77R (p.Gln77Arg) variant of ANKRD1 (Q15327)
Q77R (p.Gln77Arg) in ANKRD1 (Q15327) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
Q77R (p.Gln77Arg) variant details
- p.Gln77Arg
- gnomAD rs1847407241
- Missense
- Variant Prioritization Score for Impact Estimate 0.253
- REVEL 0.07
- CADD 22.10
- PolyPhen-2 0.08
- SIFT 0.55
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available