V12I (p.Val12Ile) variant of KRIT1 (O00522)
V12I (p.Val12Ile) in KRIT1 (O00522) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
V12I (p.Val12Ile) variant details
- p.Val12Ile
- TOPMed rs1015584962
- gnomAD rs1015584962
- Missense
- Variant Prioritization Score for Impact Estimate 0.362
- REVEL 0.19
- CADD 22.60
- PolyPhen-2 0.89
- SIFT 0.69
- Most common in the 1KG:YRI population (allele frequency 0.0043)
- Structural context available