P59S (p.Pro59Ser) variant of PPP2R5D (Q14738)
P59S (p.Pro59Ser) in PPP2R5D (Q14738) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
P59S (p.Pro59Ser) variant details
- p.Pro59Ser
- rs376202873
- ClinGen CA3811769
- ClinVar RCV003273781
- ClinVar RCV003730511
- Uncertain significance
- Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.238
- AlphaMissense 0.17
- MetaLR 0.05
- MetaSVM -1.08
- PolyPhen-2 0.04
- SIFT 0.07
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided)
- 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)