W4S (p.Trp4Ser) variant of FGFR1 (P11362)
W4S (p.Trp4Ser) in FGFR1 (P11362) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance in the context of in HH2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
W4S (p.Trp4Ser) variant details
- p.Trp4Ser
- Ensembl rs2151347338
- Uncertain significance
- in HH2
- Missense
- Variant Prioritization Score for Impact Estimate 0.628
- REVEL 0.55
- CADD 23.40
- PolyPhen-2 0.06
- SIFT 0.08
- EBI: uncertain significance (in HH2)
- UniProt: Uncertain significance (in HH2)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available