P2T (p.Pro2Thr) variant of BMPR1A (P36894)
P2T (p.Pro2Thr) in BMPR1A (P36894) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of Juvenile polyposis syndrome; Hereditary cancer-predisposing syndrome; not specif. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
P2T (p.Pro2Thr) variant details
- p.Pro2Thr
- rs11528010
- ClinGen CA157462
- ClinVar RCV000034703
- ClinVar RCV000120253
- Benign
- Juvenile polyposis syndrome; Hereditary cancer-predisposing syndrome; not specif
- Missense
- Variant Prioritization Score for Impact Estimate 0.274
- REVEL 0.21
- CADD 11.70
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Benign (Juvenile polyposis syndrome; Hereditary cancer-predisposing synd)
- EBI: Benign (in dbSNP:rs11528010)
- UniProt: Benign (in dbSNP:rs11528010)
- Most common in the HGDP:PAPUANHIGHLANDS population (allele frequency 1)
- Structural context available
- Cited in: Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID 14702039)
- Cited in: Patterns of somatic mutation in human cancer genomes. (PMID 17344846)