N71D (p.Asn71Asp) variant of CDKL5 (Cyclin-dependent kinase-like 5)
N71D (p.Asn71Asp) in CDKL5 (Cyclin-dependent kinase-like 5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of CDKL5 disorder; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes structural context.
N71D (p.Asn71Asp) variant details
- p.Asn71Asp
- rs587783072
- ClinGen CA199365
- ClinVar RCV000144734
- ClinVar RCV000169981
- Conflicting interpretations
- CDKL5 disorder; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.606
- AlphaMissense 0.97
- MetaLR 0.45
- MetaSVM 0.14
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.79
- ClinVar: Conflicting classifications of pathogenicity (CDKL5 disorder; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available