M17V (p.Met17Val) variant of DDC (P20711)
M17V (p.Met17Val) in DDC (P20711) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
M17V (p.Met17Val) variant details
- p.Met17Val
- rs6264
- ClinGen CA4262512
- cosmic curated COSV10744
- ClinVar RCV001518342
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.0982
- REVEL 0.12
- CADD 1.24
- PolyPhen-2 0.00
- SIFT 0.43
- EBI: Benign (in dbSNP:rs6264)
- UniProt: Benign (in dbSNP:rs6264)
- Most common in the Finnish in Finland (FIN) population (allele frequency 1)
- Structural context available
- Cited in: Characterization of single-nucleotide polymorphisms in coding regions of human genes. (PMID 10391209)
- Cited in: Molecular cloning of genomic DNA and chromosomal assignment of the gene for human aromatic L-amino acid decarboxylase… (PMID 1540578)