P35A (p.Pro35Ala) variant of DDC (P20711)
P35A (p.Pro35Ala) 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 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
P35A (p.Pro35Ala) variant details
- p.Pro35Ala
- rs762044255
- ClinGen CA4262502
- ClinVar RCV003271759
- ExAC rs762044255
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.77
- AlphaMissense 0.82
- MetaLR 0.72
- MetaSVM 0.57
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.74
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)