S3P (p.Ser3Pro) variant of BMPR2 (Q13873)
S3P (p.Ser3Pro) 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 0.23 / 1. The record also includes population frequency data and structural context.
S3P (p.Ser3Pro) variant details
- p.Ser3Pro
- ExAC rs748855275
- gnomAD rs748855275
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.226
- REVEL 0.27
- CADD 13.90
- PolyPhen-2 0.00
- SIFT 0.21
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available