S66A (p.Ser66Ala) variant of HNRNPU (Q00839)
S66A (p.Ser66Ala) in HNRNPU (Q00839) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
S66A (p.Ser66Ala) variant details
- p.Ser66Ala
- gnomAD rs1355156088
- Missense
- Variant Prioritization Score for Impact Estimate 0.295
- REVEL 0.05
- ESM-1b 0.00
- AlphaMissense 0.05
- CADD 18.30
- PolyPhen-2 0.00
- SIFT 0.50
- Most common in the South Asian population (allele frequency 4.7e-05)
- Structural context available