L62V (p.Leu62Val) variant of HNRNPU (Q00839)
L62V (p.Leu62Val) in HNRNPU (Q00839) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of HNRNPU-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
L62V (p.Leu62Val) variant details
- p.Leu62Val
- rs2527895970
- ClinGen CA345497739
- ClinVar RCV003972014
- Uncertain significance
- HNRNPU-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.209
- REVEL 0.06
- ESM-1b 0.00
- AlphaMissense 0.06
- CADD 21.60
- PolyPhen-2 0.01
- SIFT 0.30
- ClinVar: Uncertain significance (HNRNPU-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available