K42K (p.Lys42Lys) variant of BMPR1A (P36894)
K42K (p.Lys42Lys) in BMPR1A (P36894) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
K42K (p.Lys42Lys) variant details
- p.Lys42Lys
- rs773814289
- gnomAD 10-86890120-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.137
- CADD 7.26
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available