D129G (p.Asp129Gly) variant of SHTN1 (Shootin-1)
D129G (p.Asp129Gly) in SHTN1 (Shootin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
D129G (p.Asp129Gly) variant details
- p.Asp129Gly
- ESP rs139387197
- TOPMed rs139387197
- gnomAD rs139387197
- Missense
- Variant Prioritization Score for Impact Estimate 0.213
- REVEL 0.02
- ESM-1b 0.00
- AlphaMissense 0.07
- MetaLR 0.06
- MetaSVM -1.05
- CADD 22.90
- Most common in the HGDP:BANTUKENYA population (allele frequency 0.2)
- Structural context available