D70G (p.Asp70Gly) variant of KRIT1 (O00522)
D70G (p.Asp70Gly) in KRIT1 (O00522) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
D70G (p.Asp70Gly) variant details
- p.Asp70Gly
- TOPMed rs1050501717
- gnomAD rs1050501717
- Missense
- Variant Prioritization Score for Impact Estimate 0.515
- REVEL 0.42
- CADD 29.30
- PolyPhen-2 0.00
- SIFT 0.03
- Most common in the HGDP:MOZABITE population (allele frequency 0.02)
- Structural context available