K33E (p.Lys33Glu) variant of SHTN1 (Shootin-1)
K33E (p.Lys33Glu) 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.
K33E (p.Lys33Glu) variant details
- p.Lys33Glu
- gnomAD rs1272920446
- Missense
- Variant Prioritization Score for Impact Estimate 0.463
- REVEL 0.42
- ESM-1b 0.00
- AlphaMissense 0.23
- CADD 27.30
- PolyPhen-2 0.99
- SIFT 0.19
- Most common in the HGDP:RUSSIAN population (allele frequency 0.08)
- Structural context available