K62T (p.Lys62Thr) variant of BMPR2 (Q13873)
K62T (p.Lys62Thr) in BMPR2 (Q13873) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
K62T (p.Lys62Thr) variant details
- p.Lys62Thr
- gnomAD 2-202464917-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.703
- REVEL 0.76
- CADD 24.10
- PolyPhen-2 0.70
- SIFT 0.12
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available