M104I (p.Met104Ile) variant of HNRNPU (Q00839)
M104I (p.Met104Ile) 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.
M104I (p.Met104Ile) variant details
- p.Met104Ile
- cosmic curated COSV51690
- TOPMed rs1206468968
- gnomAD rs1206468968
- Missense
- Variant Prioritization Score for Impact Estimate 0.258
- REVEL 0.05
- ESM-1b 0.00
- AlphaMissense 0.34
- CADD 21.80
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available