M53V (p.Met53Val) variant of HNRNPU (Q00839)
M53V (p.Met53Val) in HNRNPU (Q00839) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of Inborn genetic diseases; Developmental and epileptic encephalopathy, 54. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
M53V (p.Met53Val) variant details
- p.Met53Val
- rs770396451
- ClinGen CA1486858
- ClinVar RCV002391288
- ClinVar RCV003061717
- Benign/Likely benign
- Inborn genetic diseases; Developmental and epileptic encephalopathy, 54
- Missense
- Variant Prioritization Score for Impact Estimate 0.174
- REVEL 0.03
- ESM-1b 0.00
- AlphaMissense 0.05
- CADD 17.70
- PolyPhen-2 0.00
- SIFT 0.17
- ClinVar: Benign/Likely benign (Inborn genetic diseases; Developmental and epileptic encephalopa)
- EBI: Benign
- UniProt: Benign
- Most common in the African/African-American population (allele frequency 9.7e-05)
- Structural context available
- Cited in: HNRNPU-Related Neurodevelopmental Disorder. (PMID 35274911)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)