K159Q (p.Lys159Gln) variant of SHTN1 (Shootin-1)
K159Q (p.Lys159Gln) in SHTN1 (Shootin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
K159Q (p.Lys159Gln) variant details
- p.Lys159Gln
- ExAC rs755246356
- gnomAD rs755246356
- Missense
- Variant Prioritization Score for Impact Estimate 0.371
- REVEL 0.11
- ESM-1b 1.00
- AlphaMissense 0.14
- MetaLR 0.21
- MetaSVM -0.79
- CADD 24.80
- Most common in the HGDP:ADYGEI population (allele frequency 0.088)
- Structural context available