K183Q (p.Lys183Gln) variant of SHTN1 (Shootin-1)
K183Q (p.Lys183Gln) in SHTN1 (Shootin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
K183Q (p.Lys183Gln) variant details
- p.Lys183Gln
- 1000Genomes rs150615231
- ExAC rs150615231
- Missense
- Variant Prioritization Score for Impact Estimate 0.338
- REVEL 0.11
- ESM-1b 1.00
- AlphaMissense 0.11
- MetaLR 0.14
- MetaSVM -1.00
- CADD 24.20
- Most common in the 1KG:GIH population (allele frequency 0.02)
- Structural context available