P70L (p.Pro70Leu) variant of H6PD (O95479)
P70L (p.Pro70Leu) in H6PD (O95479) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. 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.
P70L (p.Pro70Leu) variant details
- p.Pro70Leu
- rs1165969718
- ClinGen CA338187385
- ClinVar RCV004396856
- TOPMed rs1165969718
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.434
- REVEL 0.39
- MetaLR 0.65
- MetaSVM 0.14
- CADD 13.70
- PolyPhen-2 0.00
- SIFT 0.60
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 5e-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)