S2T (p.Ser2Thr) variant of HNRNPU (Q00839)
S2T (p.Ser2Thr) in HNRNPU (Q00839) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
S2T (p.Ser2Thr) variant details
- p.Ser2Thr
- Ensembl rs1014509764
- Missense
- Variant Prioritization Score for Impact Estimate 0.383
- REVEL 0.14
- ESM-1b 0.35
- AlphaMissense 0.13
- CADD 24.10
- PolyPhen-2 0.90
- SIFT 0.05
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available