W13S (p.Trp13Ser) variant of BMPR2 (Q13873)
W13S (p.Trp13Ser) in BMPR2 (Q13873) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
W13S (p.Trp13Ser) variant details
- p.Trp13Ser
- gnomAD 2-202377512-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.251
- REVEL 0.19
- CADD 22.00
- PolyPhen-2 0.00
- SIFT 0.21
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available