A6V (p.Ala6Val) variant of ETV6 (Transcription factor ETV6)
A6V (p.Ala6Val) in ETV6 (Transcription factor ETV6) is a missense change. Clinical records from ClinVar and UniProt describe it as likely benign in the context of Inborn genetic diseases. The record also includes variant effect predictions and structural context.
A6V (p.Ala6Val) variant details
- p.Ala6Val
- NCI-TCGA Cosmic COSV6715
- Likely benign
- Inborn genetic diseases
- Missense
- MetaLR 0.01
- MetaSVM -0.97
- SIFT 0.22
- ClinVar: Likely benign (Inborn genetic diseases)
- UniProt: Likely benign
- Structural context available