I23V (p.Ile23Val) variant of HADHB (P55084)
I23V (p.Ile23Val) in HADHB (P55084) 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 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
I23V (p.Ile23Val) variant details
- p.Ile23Val
- rs761139282
- ClinGen CA1560076
- ClinVar RCV003347289
- ExAC rs761139282
- Likely benign
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.194
- REVEL 0.28
- CADD 0.00
- PolyPhen-2 0.00
- SIFT 0.75
- ClinVar: Likely benign (Inborn genetic diseases)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 0.00012)
- 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)