Q172R (p.Gln172Arg) variant of PICALM (Q13492)
Q172R (p.Gln172Arg) in PICALM (Q13492) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and structural context.
Q172R (p.Gln172Arg) variant details
- p.Gln172Arg
- ExAC rs764258400
- gnomAD rs764258400
- Missense
- Variant Prioritization Score for Impact Estimate 0.723
- REVEL 0.78
- CADD 27.00
- PolyPhen-2 0.94
- SIFT 0.00
- Most common in the South Asian population (allele frequency 2.4e-05)
- Structural context available