G71V (p.Gly71Val) variant of HNRNPU (Q00839)
G71V (p.Gly71Val) 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.
G71V (p.Gly71Val) variant details
- p.Gly71Val
- Ensembl rs2102990909
- Uncertain significance
- Developmental and epileptic encephalopathy, 54
- Missense
- Variant Prioritization Score for Impact Estimate 0.238
- REVEL 0.05
- ESM-1b 0.00
- AlphaMissense 0.09
- CADD 22.20
- ClinVar: Uncertain significance (Developmental and epileptic encephalopathy, 54)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:YI population (allele frequency 0.05)
- Structural context available