G101V (p.Gly101Val) variant of KRIT1 (O00522)
G101V (p.Gly101Val) in KRIT1 (O00522) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Cerebral cavernous malformation; Angiokeratoma corporis diffusum w. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
G101V (p.Gly101Val) variant details
- p.Gly101Val
- rs147568834
- ClinGen CA4339419
- ClinVar RCV000265398
- ClinVar RCV000320476
- Conflicting interpretations
- not provided; Cerebral cavernous malformation; Angiokeratoma corporis diffusum w
- Missense
- Variant Prioritization Score for Impact Estimate 0.624
- REVEL 0.49
- CADD 26.70
- PolyPhen-2 1.00
- SIFT 0.40
- ClinVar: Conflicting classifications of pathogenicity (not provided; Cerebral cavernous malformation; Angiokeratoma cor)
- EBI: Benign
- UniProt: Benign
- Most common in the Non-Finnish European population (allele frequency 0.00081)
- 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)