T128P (p.Thr128Pro) variant of SHTN1 (Shootin-1)
T128P (p.Thr128Pro) in SHTN1 (Shootin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
T128P (p.Thr128Pro) variant details
- p.Thr128Pro
- ExAC rs766942469
- TOPMed rs766942469
- gnomAD rs766942469
- Missense
- Variant Prioritization Score for Impact Estimate 0.135
- REVEL 0.10
- ESM-1b 0.00
- AlphaMissense 0.06
- MetaLR 0.01
- MetaSVM -1.00
- CADD 9.47
- Most common in the HGDP:SAN population (allele frequency 1)
- Structural context available