L29P (p.Leu29Pro) variant of GYS2 (P54840)
L29P (p.Leu29Pro) in GYS2 (P54840) 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 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
L29P (p.Leu29Pro) variant details
- p.Leu29Pro
- rs1242569336
- ClinGen CA384295769
- ClinVar RCV004388763
- TOPMed rs1242569336
- Uncertain significance
- Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.51
- REVEL 0.39
- ESM-1b 0.51
- AlphaMissense 0.95
- CADD 26.40
- PolyPhen-2 0.55
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 3.3e-05)
- 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)