K43T (p.Lys43Thr) variant of BMPR1A (P36894)
K43T (p.Lys43Thr) in BMPR1A (P36894) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Juvenile polyposis syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
K43T (p.Lys43Thr) variant details
- p.Lys43Thr
- rs2133395088
- ClinGen CA377446560
- ClinVar RCV003596965
- Uncertain significance
- Juvenile polyposis syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.374
- REVEL 0.29
- MetaLR 0.26
- MetaSVM -0.86
- CADD 23.10
- PolyPhen-2 0.01
- SIFT 0.23
- ClinVar: Uncertain significance (Juvenile polyposis syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Juvenile Polyposis Syndrome. (PMID 20301642)
- Cited in: Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version. (PMID 26389258)