A8P (p.Ala8Pro) variant of ARID1B (Q8NFD5)
A8P (p.Ala8Pro) in ARID1B (Q8NFD5) is a missense change. Clinical records from ClinVar and UniProt describe it as conflicting interpretations in the context of Inborn genetic diseases; not provided. 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.
A8P (p.Ala8Pro) variant details
- p.Ala8Pro
- TOPMed rs1397938107
- gnomAD rs1397938107
- Conflicting interpretations
- Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.362
- CADD 17.80
- PolyPhen-2 0.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; not provided)
- UniProt: Conflicting interpretations
- Most common in the Non-Finnish European population (allele frequency 3.4e-06)
- Structural context available