S52F (p.Ser52Phe) variant of BMPR2 (Q13873)
S52F (p.Ser52Phe) in BMPR2 (Q13873) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
S52F (p.Ser52Phe) variant details
- p.Ser52Phe
- Ensembl rs1051805297
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.609
- REVEL 0.53
- CADD 20.90
- PolyPhen-2 0.03
- SIFT 0.75
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available