Q155L (p.Gln155Leu) variant of SHTN1 (Shootin-1)
Q155L (p.Gln155Leu) in SHTN1 (Shootin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
Q155L (p.Gln155Leu) variant details
- p.Gln155Leu
- ExAC rs779079783
- Missense
- Variant Prioritization Score for Impact Estimate 0.243
- REVEL 0.07
- ESM-1b 0.00
- AlphaMissense 0.11
- MetaLR 0.07
- MetaSVM -1.07
- CADD 23.40
- Most common in the HGDP:XIBO population (allele frequency 0.056)
- Structural context available