G44R (p.Gly44Arg) variant of KRIT1 (O00522)
G44R (p.Gly44Arg) in KRIT1 (O00522) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data and structural context.
G44R (p.Gly44Arg) variant details
- p.Gly44Arg
- gnomAD rs1413016568
- Missense
- Variant Prioritization Score for Impact Estimate 0.675
- REVEL 0.66
- CADD 26.90
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available