A648V (p.Ala648Val) variant of KRIT1 (O00522)
A648V (p.Ala648Val) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes published literature and structural context.
A648V (p.Ala648Val) variant details
- p.Ala648Val
- rs2131308052
- ClinGen CA368139689
- ClinVar RCV002020342
- Ensembl rs2131308052
- Uncertain significance
- Cerebral cavernous malformation
- Missense
- Variant Prioritization Score for Impact Estimate 0.406
- AlphaMissense 0.20
- MetaLR 0.27
- MetaSVM -0.69
- PolyPhen-2 0.71
- SIFT 0.26
- EVE 0.24
- ClinVar: Uncertain significance (Cerebral cavernous malformation)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)