S38N (p.Ser38Asn) variant of SETD5 (Q9C0A6)
S38N (p.Ser38Asn) in SETD5 (Q9C0A6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
S38N (p.Ser38Asn) variant details
- p.Ser38Asn
- rs775518851
- ClinGen CA2238832
- NCI-TCGA Cosmic COSV5671
- cosmic curated COSV56710
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.415
- REVEL 0.31
- MetaLR 0.44
- MetaSVM -0.46
- CADD 14.90
- PolyPhen-2 0.00
- SIFT 0.40
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.4e-05)
- Structural context available