T52M (p.Thr52Met) variant of DDC (P20711)
T52M (p.Thr52Met) in DDC (P20711) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
T52M (p.Thr52Met) variant details
- p.Thr52Met
- rs371272735
- cosmic curated COSV63566
- ESP rs371272735
- ExAC rs371272735
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.173
- REVEL 0.11
- CADD 16.80
- PolyPhen-2 0.04
- SIFT 0.03
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 3.5e-05)
- Structural context available