V60A (p.Val60Ala) variant of DDC (P20711)
V60A (p.Val60Ala) 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 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
V60A (p.Val60Ala) variant details
- p.Val60Ala
- rs770446305
- ClinGen CA4262476
- ClinVar RCV003990558
- ExAC rs770446305
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.434
- REVEL 0.30
- CADD 23.70
- PolyPhen-2 0.62
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 7.4e-05)
- Structural context available
- Cited in: Aromatic L-Amino Acid Decarboxylase Deficiency. (PMID 37824694)