A62T (p.Ala62Thr) variant of RELN (Reelin)
A62T (p.Ala62Thr) in RELN (Reelin) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The record also includes variant effect predictions and population frequency data.
A62T (p.Ala62Thr) variant details
- p.Ala62Thr
- rs1238589028
- NCI-TCGA Cosmic COSV5902
- cosmic curated COSV59022
- TOPMed rs1238589028
- Variant assessed as somatic; moderate impact.
- Missense
- REVEL 0.06
- MetaLR 0.05
- MetaSVM -1.08
- CADD 23.20
- PolyPhen-2 0.02
- SIFT 0.49
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the REMAINING population (allele frequency 1.7e-05)