M105V (p.Met105Val) variant of SHTN1 (Shootin-1)
M105V (p.Met105Val) in SHTN1 (Shootin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
M105V (p.Met105Val) variant details
- p.Met105Val
- ExAC rs749249239
- gnomAD rs749249239
- Missense
- Variant Prioritization Score for Impact Estimate 0.647
- REVEL 0.59
- ESM-1b 1.00
- AlphaMissense 0.34
- MetaLR 0.76
- MetaSVM 0.48
- CADD 24.50
- Most common in the HGDP:ADYGEI population (allele frequency 0.088)
- Structural context available