T126A (p.Thr126Ala) variant of SHTN1 (Shootin-1)
T126A (p.Thr126Ala) in SHTN1 (Shootin-1) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data and structural context.
T126A (p.Thr126Ala) variant details
- p.Thr126Ala
- NCI-TCGA Cosmic COSV9959
- cosmic curated COSV99599
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.131
- REVEL 0.04
- ESM-1b 0.00
- AlphaMissense 0.06
- MetaLR 0.49
- MetaSVM -0.70
- CADD 5.23
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the HGDP:PIMA population (allele frequency 0.091)
- Structural context available