T125A (p.Thr125Ala) variant of SHTN1 (Shootin-1)
T125A (p.Thr125Ala) in SHTN1 (Shootin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data and structural context.
T125A (p.Thr125Ala) variant details
- p.Thr125Ala
- gnomAD rs1427640696
- Missense
- Variant Prioritization Score for Impact Estimate 0.116
- REVEL 0.04
- ESM-1b 0.00
- AlphaMissense 0.05
- MetaLR 0.37
- MetaSVM -0.65
- CADD 1.41
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available