P131A (p.Pro131Ala) variant of ADNP (Q9H2P0)
P131A (p.Pro131Ala) in ADNP (Q9H2P0) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Global developmental delay. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
P131A (p.Pro131Ala) variant details
- p.Pro131Ala
- rs1020146684
- ClinGen CA408978162
- ClinVar RCV001527634
- TOPMed rs1020146684
- Uncertain significance
- Global developmental delay
- Missense
- Variant Prioritization Score for Impact Estimate 0.755
- CADD 24.90
- ClinVar: Uncertain significance (Global developmental delay)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Cited in: Evidence report: Genetic and metabolic testing on children with global developmental delay [RETIRED]: report of the… (PMID 21956720)
- Cited in: Exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability: an… (PMID 34211152)