V73A (p.Val73Ala) variant of KRIT1 (O00522)
V73A (p.Val73Ala) in KRIT1 (O00522) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
V73A (p.Val73Ala) variant details
- p.Val73Ala
- ExAC rs771579206
- TOPMed rs771579206
- gnomAD rs771579206
- Missense
- Variant Prioritization Score for Impact Estimate 0.286
- REVEL 0.07
- CADD 21.40
- PolyPhen-2 0.00
- SIFT 0.48
- Most common in the 1KG:MSL population (allele frequency 0.0063)
- Structural context available