A116G (p.Ala116Gly) variant of ADNP (Q9H2P0)
A116G (p.Ala116Gly) in ADNP (Q9H2P0) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data and structural context.
A116G (p.Ala116Gly) variant details
- p.Ala116Gly
- ExAC rs774846069
- TOPMed rs774846069
- gnomAD rs774846069
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.698
- CADD 19.10
- PolyPhen-2 0.00
- SIFT 0.93
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available