M105L (p.Met105Leu) variant of SHTN1 (Shootin-1)
M105L (p.Met105Leu) in SHTN1 (Shootin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
M105L (p.Met105Leu) variant details
- p.Met105Leu
- ExAC rs749249239
- gnomAD rs749249239
- Missense
- Variant Prioritization Score for Impact Estimate 0.566
- REVEL 0.51
- ESM-1b 0.62
- AlphaMissense 0.26
- MetaLR 0.68
- MetaSVM 0.12
- CADD 22.90
- Most common in the HGDP:YORUBA population (allele frequency 0.048)
- Structural context available