V113I (p.Val113Ile) variant of KRIT1 (O00522)
V113I (p.Val113Ile) in KRIT1 (O00522) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
V113I (p.Val113Ile) variant details
- p.Val113Ile
- TOPMed rs1798706139
- gnomAD rs1798706139
- Missense
- Variant Prioritization Score for Impact Estimate 0.574
- REVEL 0.42
- CADD 25.60
- PolyPhen-2 0.89
- SIFT 0.00
- Most common in the HGDP:XIBO population (allele frequency 0.56)
- Structural context available