L60R (p.Leu60Arg) variant of HNRNPU (Q00839)
L60R (p.Leu60Arg) in HNRNPU (Q00839) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
L60R (p.Leu60Arg) variant details
- p.Leu60Arg
- ExAC rs780434344
- Missense
- Variant Prioritization Score for Impact Estimate 0.258
- REVEL 0.13
- ESM-1b 0.00
- AlphaMissense 0.12
- CADD 23.00
- PolyPhen-2 0.05
- SIFT 0.33
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available