I5N (p.Ile5Asn) variant of SETD5 (Q9C0A6)
I5N (p.Ile5Asn) in SETD5 (Q9C0A6) 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 0.63 / 1. The record also includes population frequency data and structural context.
I5N (p.Ile5Asn) variant details
- p.Ile5Asn
- rs377000906
- ClinGen CA2238794
- cosmic curated COSV10739
- ClinVar RCV002595866
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.632
- REVEL 0.56
- MetaLR 0.82
- MetaSVM 0.80
- CADD 26.20
- PolyPhen-2 0.55
- SIFT 0.00
- ClinVar: Likely benign (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 9e-05)
- Structural context available