K17Q (p.Lys17Gln) variant of SHTN1 (Shootin-1)
K17Q (p.Lys17Gln) in SHTN1 (Shootin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
K17Q (p.Lys17Gln) variant details
- p.Lys17Gln
- TOPMed rs1851964309
- Missense
- Variant Prioritization Score for Impact Estimate 0.323
- REVEL 0.18
- ESM-1b 0.00
- AlphaMissense 0.51
- CADD 23.60
- PolyPhen-2 0.43
- SIFT 0.19
- Most common in the 1KG:GIH population (allele frequency 0.02)
- Structural context available