R87K (p.Arg87Lys) variant of KRIT1 (O00522)
R87K (p.Arg87Lys) in KRIT1 (O00522) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
R87K (p.Arg87Lys) variant details
- p.Arg87Lys
- TOPMed rs1335478074
- gnomAD rs1335478074
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.154
- REVEL 0.07
- CADD 14.30
- PolyPhen-2 0.00
- SIFT 1.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:MSL population (allele frequency 0.0063)
- Structural context available