A1250T (p.Ala1250Thr) variant of DCC (Netrin receptor DCC)
A1250T (p.Ala1250Thr) in DCC (Netrin receptor DCC) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as no classification for the single variant in the context of in MRMV1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
A1250T (p.Ala1250Thr) variant details
- p.Ala1250Thr
- rs748112308
- ClinVar RCV000416369
- UniProt VAR 079153
- ExAC rs748112308
- no classification for the single variant
- in MRMV1
- Missense
- Variant Prioritization Score for Impact Estimate 0.484
- REVEL 0.30
- MetaLR 0.35
- MetaSVM -0.58
- CADD 28.40
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: no classification for the single variant (in MRMV1)
- EBI: Pathogenic (in MRMV1)
- UniProt: Pathogenic (in MRMV1)
- Most common in the Non-Finnish European population (allele frequency 5.9e-05)
- Structural context available
- Cited in: Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance. (PMID 28250454)
- Cited in: Mutations in DCC cause congenital mirror movements. (PMID 20431009)