L11V (p.Leu11Val) variant of H6PD (O95479)
L11V (p.Leu11Val) in H6PD (O95479) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
L11V (p.Leu11Val) variant details
- p.Leu11Val
- rs138547645
- ClinGen CA574869
- ClinVar RCV002964017
- ESP rs138547645
- Likely benign
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.197
- REVEL 0.18
- MetaLR 0.67
- MetaSVM 0.13
- CADD 0.01
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Likely benign (Inborn genetic diseases)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 0.0006)
- 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)