D41N (p.Asp41Asn) variant of IDH2 (P48735)
D41N (p.Asp41Asn) in IDH2 (P48735) 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 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
D41N (p.Asp41Asn) variant details
- p.Asp41Asn
- rs372928432
- ClinGen CA7733275
- ClinVar RCV002779278
- ESP rs372928432
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.195
- REVEL 0.11
- CADD 17.00
- PolyPhen-2 0.00
- SIFT 0.39
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 7.2e-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)