T187S (p.Thr187Ser) variant of SHTN1 (Shootin-1)
T187S (p.Thr187Ser) in SHTN1 (Shootin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
T187S (p.Thr187Ser) variant details
- p.Thr187Ser
- TOPMed rs1170502239
- Missense
- Variant Prioritization Score for Impact Estimate 0.179
- REVEL 0.05
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.15
- MetaSVM -1.00
- CADD 16.30
- Most common in the HGDP:PIMA population (allele frequency 0.091)
- Structural context available