D119G (p.Asp119Gly) variant of KRIT1 (O00522)
D119G (p.Asp119Gly) in KRIT1 (O00522) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
D119G (p.Asp119Gly) variant details
- p.Asp119Gly
- TOPMed rs1469867475
- gnomAD rs1469867475
- Missense
- Variant Prioritization Score for Impact Estimate 0.565
- REVEL 0.51
- CADD 27.00
- PolyPhen-2 0.32
- SIFT 0.15
- Most common in the 1KG:MSL population (allele frequency 0.0063)
- Structural context available