F16C (p.Phe16Cys) variant of BMPR1A (P36894)
F16C (p.Phe16Cys) in BMPR1A (P36894) 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 0.42 / 1. The record also includes structural context.
F16C (p.Phe16Cys) variant details
- p.Phe16Cys
- rs151235720
- ClinGen CA298502
- ClinVar RCV000159833
- ESP rs151235720
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.419
- AlphaMissense 0.19
- MetaLR 0.32
- MetaSVM -0.47
- PolyPhen-2 0.30
- SIFT 0.01
- MutPred 0.29
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available