Q103L (p.Gln103Leu) variant of HNRNPU (Q00839)
Q103L (p.Gln103Leu) in HNRNPU (Q00839) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
Q103L (p.Gln103Leu) variant details
- p.Gln103Leu
- gnomAD rs1485854484
- Missense
- Variant Prioritization Score for Impact Estimate 0.2
- REVEL 0.03
- ESM-1b 0.00
- AlphaMissense 0.09
- CADD 22.60
- PolyPhen-2 0.00
- SIFT 0.23
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available