Y145D (p.Tyr145Asp) variant of FERMT1 (Fermitin family homolog 1)
Y145D (p.Tyr145Asp) 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 0.24 / 1. The record also includes population frequency data and structural context.
Y145D (p.Tyr145Asp) variant details
- p.Tyr145Asp
- rs1230840491
- ClinGen CA408190517
- ClinVar RCV001877237
- TOPMed rs1230840491
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.24
- REVEL 0.09
- CADD 22.50
- PolyPhen-2 0.18
- SIFT 0.21
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available