K77R (p.Lys77Arg) variant of KRIT1 (O00522)
K77R (p.Lys77Arg) in KRIT1 (O00522) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cerebral cavernous malformation; Angiokeratoma corporis diffusum with arterioven. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
K77R (p.Lys77Arg) variant details
- p.Lys77Arg
- rs1799505965
- ClinGen CA368165724
- ClinVar RCV001158903
- ClinVar RCV001158904
- Uncertain significance
- Cerebral cavernous malformation; Angiokeratoma corporis diffusum with arterioven
- Missense
- Variant Prioritization Score for Impact Estimate 0.413
- AlphaMissense 0.09
- MetaLR 0.47
- MetaSVM -0.30
- PolyPhen-2 0.00
- SIFT 0.05
- EVE 0.21
- ClinVar: Uncertain significance (Cerebral cavernous malformation; Angiokeratoma corporis diffusum)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Hemorrhage from cavernous malformations of the brain: definition and reporting standards. Angioma Alliance Scientific… (PMID 18974380)
- Cited in: Familial Cerebral Cavernous Malformations. (PMID 20301470)