V60I (p.Val60Ile) variant of DDC (P20711)
V60I (p.Val60Ile) in DDC (P20711) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.05 / 1. The record also includes population frequency data, published literature, and structural context.
V60I (p.Val60Ile) variant details
- p.Val60Ile
- rs142925706
- ClinGen CA4262477
- cosmic curated COSV63567
- ClinVar RCV000697255
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.0521
- REVEL 0.03
- CADD 0.18
- PolyPhen-2 0.00
- SIFT 0.98
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:ADYGEI population (allele frequency 0.029)
- Structural context available
- Cited in: Aromatic L-Amino Acid Decarboxylase Deficiency. (PMID 37824694)