p.Val75 Tyr78del variant of SOST (Sclerostin)
p.Val75 Tyr78del in SOST (Sclerostin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
p.Val75 Tyr78del variant details
- gnomAD 17-43755749-TGTAC
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.607
- CADD 22.10
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available
- Literature evidence available