S2R (p.Ser2Arg) variant of HNRNPU (Q00839)
S2R (p.Ser2Arg) in HNRNPU (Q00839) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
S2R (p.Ser2Arg) variant details
- p.Ser2Arg
- 1000Genomes rs1680942375
- TOPMed rs1680942375
- Missense
- Variant Prioritization Score for Impact Estimate 0.454
- REVEL 0.20
- ESM-1b 1.00
- AlphaMissense 0.71
- CADD 27.10
- PolyPhen-2 0.97
- SIFT 0.01
- Most common in the 1KG:BEB population (allele frequency 0.0051)
- Structural context available