R87T (p.Arg87Thr) variant of KRIT1 (O00522)
R87T (p.Arg87Thr) in KRIT1 (O00522) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
R87T (p.Arg87Thr) variant details
- p.Arg87Thr
- TOPMed rs1335478074
- gnomAD rs1335478074
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.273
- REVEL 0.27
- CADD 18.60
- PolyPhen-2 0.00
- SIFT 0.13
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 0.0037)
- Structural context available