S28N (p.Ser28Asn) variant of BMPR1A (P36894)
S28N (p.Ser28Asn) in BMPR1A (P36894) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Polyposis syndrome, hereditary mixed, 2; Juvenile polyposis syndrome; Hereditary. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
S28N (p.Ser28Asn) variant details
- p.Ser28Asn
- rs371904636
- ClinGen CA336464
- ClinVar RCV000196492
- ClinVar RCV000483899
- Conflicting interpretations
- Polyposis syndrome, hereditary mixed, 2; Juvenile polyposis syndrome; Hereditary
- Missense
- Variant Prioritization Score for Impact Estimate 0.357
- REVEL 0.25
- CADD 21.60
- PolyPhen-2 0.00
- SIFT 0.25
- ClinVar: Conflicting classifications of pathogenicity (Polyposis syndrome, hereditary mixed, 2; Juvenile polyposis synd)
- EBI: Benign
- UniProt: Benign
- Most common in the African/African-American population (allele frequency 0.00017)
- Structural context available
- Cited in: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)
- Cited in: Juvenile Polyposis Syndrome. (PMID 20301642)