K158N (p.Lys158Asn) variant of SHTN1 (Shootin-1)
K158N (p.Lys158Asn) in SHTN1 (Shootin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
K158N (p.Lys158Asn) variant details
- p.Lys158Asn
- TOPMed rs1849792846
- Missense
- Variant Prioritization Score for Impact Estimate 0.46
- REVEL 0.12
- ESM-1b 1.00
- AlphaMissense 0.51
- MetaLR 0.55
- MetaSVM -0.15
- CADD 24.90
- Most common in the HGDP:YORUBA population (allele frequency 0.048)
- Structural context available