S22G (p.Ser22Gly) variant of BMPR2 (Q13873)
S22G (p.Ser22Gly) in BMPR2 (Q13873) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
S22G (p.Ser22Gly) variant details
- p.Ser22Gly
- gnomAD 2-202377538-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.308
- REVEL 0.23
- CADD 19.30
- PolyPhen-2 0.00
- SIFT 0.13
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available