F22L (p.Phe22Leu) variant of VSIR (Q9H7M9)
F22L (p.Phe22Leu) in VSIR (Q9H7M9) 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 0.32 / 1. The record also includes population frequency data and structural context.
F22L (p.Phe22Leu) variant details
- p.Phe22Leu
- 1000Genomes rs370261405
- ExAC rs370261405
- TOPMed rs370261405
- gnomAD rs370261405
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.322
- REVEL 0.24
- CADD 24.80
- PolyPhen-2 0.80
- SIFT 0.31
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:CAMBODIAN population (allele frequency 0.05)
- Structural context available