V14A (p.Val14Ala) variant of SOST (Sclerostin)
V14A (p.Val14Ala) in SOST (Sclerostin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
V14A (p.Val14Ala) variant details
- p.Val14Ala
- TOPMed rs1380461935
- gnomAD rs1380461935
- Missense
- Variant Prioritization Score for Impact Estimate 0.359
- REVEL 0.26
- CADD 22.50
- PolyPhen-2 0.03
- SIFT 0.04
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available