I15T (p.Ile15Thr) variant of KRIT1 (O00522)
I15T (p.Ile15Thr) in KRIT1 (O00522) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Cerebral cavernous malformation. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
I15T (p.Ile15Thr) variant details
- p.Ile15Thr
- cosmic curated COSV56063
- Uncertain significance
- Cerebral cavernous malformation
- Missense
- Variant Prioritization Score for Impact Estimate 0.558
- REVEL 0.52
- CADD 26.00
- PolyPhen-2 0.08
- SIFT 0.00
- ClinVar: Uncertain significance (Cerebral cavernous malformation)
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 0.0026)
- Structural context available