T134A (p.Thr134Ala) variant of SHTN1 (Shootin-1)
T134A (p.Thr134Ala) in SHTN1 (Shootin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
T134A (p.Thr134Ala) variant details
- p.Thr134Ala
- ExAC rs748872589
- gnomAD rs748872589
- Missense
- Variant Prioritization Score for Impact Estimate 0.228
- REVEL 0.08
- ESM-1b 0.00
- AlphaMissense 0.07
- MetaLR 0.50
- MetaSVM -0.67
- CADD 14.50
- Most common in the HGDP:DRUZE population (allele frequency 0.1)
- Structural context available