A71T (p.Ala71Thr) variant of DCX (O43602)
A71T (p.Ala71Thr) in DCX (O43602) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Lissencephaly type 1 due to doublecortin gene mutation; Inborn gen. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes published literature and structural context.
A71T (p.Ala71Thr) variant details
- p.Ala71Thr
- rs104894786
- ClinGen CA414246873
- NCI-TCGA Cosmic COSV5757
- ClinVar RCV001030995
- Conflicting interpretations
- not provided; Lissencephaly type 1 due to doublecortin gene mutation; Inborn gen
- Missense
- Variant Prioritization Score for Impact Estimate 0.836
- AlphaMissense 0.91
- MetaLR 0.90
- MetaSVM 0.98
- SIFT 0.05
- EVE 0.59
- ClinVar: Conflicting classifications of pathogenicity (not provided; Lissencephaly type 1 due to doublecortin gene muta)
- EBI: Pathogenic (in LISX1)
- UniProt: Pathogenic (in LISX1)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)