K43K (p.Lys43Lys) variant of BMPR1A (P36894)
K43K (p.Lys43Lys) in BMPR1A (P36894) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
K43K (p.Lys43Lys) variant details
- p.Lys43Lys
- rs1843126055
- gnomAD 10-86890123-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.32
- MetaLR 0.40
- MetaSVM -0.39
- CADD 9.33
- PolyPhen-2 0.85
- SIFT 0.00
- MutPred 0.19
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available