D100A (p.Asp100Ala) variant of KRIT1 (O00522)
D100A (p.Asp100Ala) in KRIT1 (O00522) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
D100A (p.Asp100Ala) variant details
- p.Asp100Ala
- TOPMed rs1420680753
- gnomAD rs1420680753
- Missense
- Variant Prioritization Score for Impact Estimate 0.404
- REVEL 0.24
- CADD 26.80
- PolyPhen-2 0.07
- SIFT 0.02
- Most common in the 1KG:TSI population (allele frequency 0.0049)
- Structural context available