P10S (p.Pro10Ser) variant of ARID2 (Q68CP9)
P10S (p.Pro10Ser) in ARID2 (Q68CP9) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
P10S (p.Pro10Ser) variant details
- p.Pro10Ser
- 1000Genomes rs560068535
- ExAC rs560068535
- TOPMed rs560068535
- gnomAD rs560068535
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.256
- REVEL 0.02
- MetaLR 0.07
- MetaSVM -1.07
- CADD 16.50
- PolyPhen-2 0.10
- SIFT 0.73
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.2e-05)
- Structural context available