A131T (p.Ala131Thr) variant of SHTN1 (Shootin-1)
A131T (p.Ala131Thr) in SHTN1 (Shootin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
A131T (p.Ala131Thr) variant details
- p.Ala131Thr
- TOPMed rs1317954254
- gnomAD rs1317954254
- Missense
- Variant Prioritization Score for Impact Estimate 0.148
- REVEL 0.05
- ESM-1b 0.00
- AlphaMissense 0.06
- MetaLR 0.04
- MetaSVM -1.02
- CADD 12.80
- Most common in the 1KG:FIN population (allele frequency 0.0051)
- Structural context available