P10T (p.Pro10Thr) variant of ARID2 (Q68CP9)
P10T (p.Pro10Thr) in ARID2 (Q68CP9) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
P10T (p.Pro10Thr) variant details
- p.Pro10Thr
- rs560068535
- ClinGen CA156942
- ClinVar RCV000120070
- ClinVar RCV000930091
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.27
- REVEL 0.05
- MetaLR 0.07
- MetaSVM -1.05
- CADD 16.90
- PolyPhen-2 0.14
- SIFT 0.56
- ClinVar: Likely benign (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:CDX population (allele frequency 0.011)
- Structural context available