W53S (p.Trp53Ser) variant of ADNP (Q9H2P0)
W53S (p.Trp53Ser) in ADNP (Q9H2P0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data and structural context.
W53S (p.Trp53Ser) variant details
- p.Trp53Ser
- ESP rs141983216
- ExAC rs141983216
- TOPMed rs141983216
- gnomAD rs141983216
- Missense
- Variant Prioritization Score for Impact Estimate 0.794
- CADD 27.10
- PolyPhen-2 0.83
- SIFT 0.03
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available