A157V (p.Ala157Val) variant of CDKL5 (Cyclin-dependent kinase-like 5)
A157V (p.Ala157Val) in CDKL5 (Cyclin-dependent kinase-like 5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of CDKL5 disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
A157V (p.Ala157Val) variant details
- p.Ala157Val
- rs863225066
- ClinGen CA279171
- ClinVar RCV000201271
- ClinVar RCV000487793
- Likely pathogenic
- CDKL5 disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.644
- MetaLR 0.52
- MetaSVM 0.17
- CADD 24.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (CDKL5 disorder)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available
- Cited in: CDKL5 Deficiency Disorder. (PMID 38603524)