K31M (p.Lys31Met) variant of KRIT1 (O00522)
K31M (p.Lys31Met) 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 0.61 / 1. The record also includes population frequency data and structural context.
K31M (p.Lys31Met) variant details
- p.Lys31Met
- rs1367968203
- ClinGen CA368167047
- ClinVar RCV001768739
- TOPMed rs1367968203
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.614
- REVEL 0.58
- CADD 27.80
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available