I24T (p.Ile24Thr) variant of DDC (P20711)
I24T (p.Ile24Thr) in DDC (P20711) is a missense change. Clinical records from EBI and UniProt describe it as likely pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
I24T (p.Ile24Thr) variant details
- p.Ile24Thr
- rs1085307991
- ClinGen CA367532085
- ClinVar RCV000489419
- Ensembl rs1085307991
- Likely pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.546
- REVEL 0.48
- CADD 25.60
- PolyPhen-2 0.89
- SIFT 0.00
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available