I86V (p.Ile86Val) variant of KRIT1 (O00522)
I86V (p.Ile86Val) in KRIT1 (O00522) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
I86V (p.Ile86Val) variant details
- p.Ile86Val
- Ensembl rs1585022043
- Missense
- Variant Prioritization Score for Impact Estimate 0.277
- REVEL 0.06
- CADD 20.20
- PolyPhen-2 0.00
- SIFT 0.18
- Most common in the Ashkenazi Jewish population (allele frequency 0.0026)
- Structural context available