V40I (p.Val40Ile) variant of KRIT1 (O00522)
V40I (p.Val40Ile) in KRIT1 (O00522) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
V40I (p.Val40Ile) variant details
- p.Val40Ile
- TOPMed rs755097554
- gnomAD rs755097554
- Missense
- Variant Prioritization Score for Impact Estimate 0.271
- REVEL 0.12
- CADD 21.90
- PolyPhen-2 0.00
- SIFT 0.52
- Most common in the 1KG:CDX population (allele frequency 0.0057)
- Structural context available