M121L (p.Met121Leu) variant of HNRNPU (Q00839)
M121L (p.Met121Leu) in HNRNPU (Q00839) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
M121L (p.Met121Leu) variant details
- p.Met121Leu
- gnomAD rs1388856266
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.159
- REVEL 0.06
- ESM-1b 0.00
- AlphaMissense 0.06
- CADD 19.80
- PolyPhen-2 0.00
- SIFT 0.44
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-06)
- Structural context available