A87T (p.Ala87Thr) variant of SHTN1 (Shootin-1)
A87T (p.Ala87Thr) 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 0.75 / 1. The record also includes population frequency data and structural context.
A87T (p.Ala87Thr) variant details
- p.Ala87Thr
- rs776059035
- NCI-TCGA Cosmic COSV5338
- cosmic curated COSV53386
- ExAC rs776059035
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.745
- REVEL 0.61
- ESM-1b 1.00
- AlphaMissense 0.99
- MetaLR 0.87
- MetaSVM 0.71
- CADD 26.80
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Ashkenazi Jewish population (allele frequency 0.00058)
- Structural context available