S22T (p.Ser22Thr) variant of BMPR2 (Q13873)
S22T (p.Ser22Thr) in BMPR2 (Q13873) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
S22T (p.Ser22Thr) variant details
- p.Ser22Thr
- gnomAD 2-202377539-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.422
- REVEL 0.28
- CADD 22.60
- PolyPhen-2 0.00
- SIFT 0.24
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available