S15T (p.Ser15Thr) variant of SHTN1 (Shootin-1)
S15T (p.Ser15Thr) in SHTN1 (Shootin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
S15T (p.Ser15Thr) variant details
- p.Ser15Thr
- TOPMed rs1851964600
- gnomAD rs1851964600
- Missense
- Variant Prioritization Score for Impact Estimate 0.284
- REVEL 0.05
- ESM-1b 0.00
- AlphaMissense 0.10
- CADD 20.90
- PolyPhen-2 0.31
- SIFT 0.27
- Most common in the HGDP:PIMA population (allele frequency 0.091)
- Structural context available