M104K (p.Met104Lys) variant of HNRNPU (Q00839)
M104K (p.Met104Lys) in HNRNPU (Q00839) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Developmental and epileptic encephalopathy, 54. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
M104K (p.Met104Lys) variant details
- p.Met104Lys
- gnomAD rs1259318393
- Uncertain significance
- Developmental and epileptic encephalopathy, 54
- Missense
- Variant Prioritization Score for Impact Estimate 0.241
- REVEL 0.09
- ESM-1b 0.00
- AlphaMissense 0.31
- CADD 22.50
- PolyPhen-2 0.01
- SIFT 0.41
- ClinVar: Uncertain significance (Developmental and epileptic encephalopathy, 54)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available