R94H (p.Arg94His) variant of ADNP (Q9H2P0)
R94H (p.Arg94His) in ADNP (Q9H2P0) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
R94H (p.Arg94His) variant details
- p.Arg94His
- gnomAD rs1465944504
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.571
- CADD 20.70
- PolyPhen-2 0.28
- SIFT 0.45
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available