S153F (p.Ser153Phe) variant of SHTN1 (Shootin-1)
S153F (p.Ser153Phe) in SHTN1 (Shootin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data and structural context.
S153F (p.Ser153Phe) variant details
- p.Ser153Phe
- Ensembl rs1849793517
- Missense
- Variant Prioritization Score for Impact Estimate 0.697
- REVEL 0.59
- ESM-1b 1.00
- AlphaMissense 0.11
- MetaLR 0.84
- MetaSVM 0.84
- CADD 26.30
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available