S176P (p.Ser176Pro) variant of FERMT1 (Fermitin family homolog 1)
S176P (p.Ser176Pro) in FERMT1 (Fermitin family homolog 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
S176P (p.Ser176Pro) variant details
- p.Ser176Pro
- rs2514719816
- ClinGen CA408189903
- ClinVar RCV003856235
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.173
- REVEL 0.06
- CADD 14.30
- PolyPhen-2 0.00
- SIFT 0.21
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available