S64N (p.Ser64Asn) variant of BMPR2 (Q13873)
S64N (p.Ser64Asn) in BMPR2 (Q13873) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
S64N (p.Ser64Asn) variant details
- p.Ser64Asn
- gnomAD 2-202464923-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.562
- REVEL 0.44
- CADD 22.70
- PolyPhen-2 0.01
- SIFT 0.18
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available