N132K (p.Asn132Lys) variant of HNRNPU (Q00839)
N132K (p.Asn132Lys) in HNRNPU (Q00839) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
N132K (p.Asn132Lys) variant details
- p.Asn132Lys
- Ensembl rs1680927779
- Missense
- Variant Prioritization Score for Impact Estimate 0.219
- REVEL 0.06
- ESM-1b 0.00
- AlphaMissense 0.62
- CADD 22.90
- PolyPhen-2 0.01
- SIFT 0.15
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available