K31R (p.Lys31Arg) variant of KRIT1 (O00522)
K31R (p.Lys31Arg) 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 0.47 / 1. The record also includes population frequency data and structural context.
K31R (p.Lys31Arg) variant details
- p.Lys31Arg
- TOPMed rs1367968203
- gnomAD rs1367968203
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.474
- REVEL 0.36
- CADD 24.80
- PolyPhen-2 0.95
- SIFT 0.14
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:MOZABITE population (allele frequency 0.02)
- Structural context available