S64I (p.Ser64Ile) variant of BMPR2 (Q13873)
S64I (p.Ser64Ile) in BMPR2 (Q13873) is a missense change. Clinical records from ClinVar, EBI, 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 0.74 / 1. The record also includes population frequency data and structural context.
S64I (p.Ser64Ile) variant details
- p.Ser64Ile
- Ensembl rs1692290460
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.738
- REVEL 0.71
- CADD 25.60
- PolyPhen-2 0.76
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: uncertain significance (in PPH1)
- UniProt: Uncertain significance (in PPH1)
- Most common in the Non-Finnish European population (allele frequency 7.2e-06)
- Structural context available