G130S (p.Gly130Ser) variant of SHTN1 (Shootin-1)
G130S (p.Gly130Ser) in SHTN1 (Shootin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
G130S (p.Gly130Ser) variant details
- p.Gly130Ser
- TOPMed rs1253550793
- gnomAD rs1253550793
- Missense
- Variant Prioritization Score for Impact Estimate 0.285
- REVEL 0.05
- ESM-1b 0.00
- AlphaMissense 0.07
- MetaLR 0.45
- MetaSVM -0.72
- CADD 10.60
- Most common in the HGDP:BANTUKENYA population (allele frequency 0.2)
- Structural context available