V72I (p.Val72Ile) variant of KRIT1 (O00522)
V72I (p.Val72Ile) in KRIT1 (O00522) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
V72I (p.Val72Ile) variant details
- p.Val72Ile
- cosmic curated COSV60666
- ExAC rs775059905
- TOPMed rs775059905
- gnomAD rs775059905
- Missense
- Variant Prioritization Score for Impact Estimate 0.384
- REVEL 0.14
- CADD 21.30
- PolyPhen-2 0.00
- SIFT 0.05
- Most common in the 1KG:CEU population (allele frequency 0.0084)
- Structural context available