R64P (p.Arg64Pro) variant of SETD5 (Q9C0A6)
R64P (p.Arg64Pro) in SETD5 (Q9C0A6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
R64P (p.Arg64Pro) variant details
- p.Arg64Pro
- rs368353953
- ClinGen CA2238881
- ClinVar RCV000911607
- ESP rs368353953
- Benign/Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.521
- REVEL 0.36
- MetaLR 0.68
- MetaSVM 0.39
- CADD 27.40
- PolyPhen-2 0.77
- SIFT 0.00
- ClinVar: Benign/Likely benign (not provided)
- EBI: Benign
- UniProt: Benign
- Most common in the Ashkenazi Jewish population (allele frequency 0.0029)
- Structural context available