D137G (p.Asp137Gly) variant of KRIT1 (O00522)
D137G (p.Asp137Gly) in KRIT1 (O00522) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Cerebral cavernous malformation. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes published literature and structural context.
D137G (p.Asp137Gly) variant details
- p.Asp137Gly
- rs137853139
- ClinGen CA253586
- ClinVar RCV000006079
- ClinVar RCV001822994
- Likely pathogenic
- Cerebral cavernous malformation
- Missense
- Variant Prioritization Score for Impact Estimate 0.653
- AlphaMissense 1.00
- MetaLR 0.72
- MetaSVM 0.59
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.27
- ClinVar: Likely pathogenic (Cerebral cavernous malformation)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: CCM1 gene mutations in families segregating cerebral cavernous malformations. (PMID 11222804)
- Cited in: Cerebral cavernous malformations: mutations in Krit1. (PMID 11914398)