C135S (p.Cys135Ser) variant of SHTN1 (Shootin-1)
C135S (p.Cys135Ser) in SHTN1 (Shootin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
C135S (p.Cys135Ser) variant details
- p.Cys135Ser
- Ensembl rs1042236982
- Missense
- Variant Prioritization Score for Impact Estimate 0.405
- REVEL 0.32
- ESM-1b 0.08
- AlphaMissense 0.55
- MetaLR 0.11
- MetaSVM -1.11
- CADD 24.90
- Most common in the 1KG:YRI population (allele frequency 0.13)
- Structural context available