A20T (p.Ala20Thr) variant of SHTN1 (Shootin-1)
A20T (p.Ala20Thr) in SHTN1 (Shootin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
A20T (p.Ala20Thr) variant details
- p.Ala20Thr
- TOPMed rs1402661565
- gnomAD rs1402661565
- Missense
- Variant Prioritization Score for Impact Estimate 0.53
- REVEL 0.42
- ESM-1b 0.00
- AlphaMissense 0.91
- CADD 35.00
- PolyPhen-2 0.98
- SIFT 0.01
- Most common in the HGDP:YORUBA population (allele frequency 0.048)
- Structural context available