M93V (p.Met93Val) variant of DDC (P20711)
M93V (p.Met93Val) 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 0.40 / 1. The record also includes population frequency data and structural context.
M93V (p.Met93Val) variant details
- p.Met93Val
- rs1190938278
- NCI-TCGA Cosmic COSV6356
- cosmic curated COSV63563
- TOPMed rs1190938278
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.398
- REVEL 0.36
- CADD 23.10
- PolyPhen-2 0.17
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available