V49I (p.Val49Ile) variant of SETD2 (Q9BYW2)
V49I (p.Val49Ile) in SETD2 (Q9BYW2) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The record also includes experimental measurements and structural context.
V49I (p.Val49Ile) variant details
- p.Val49Ile
- NCI-TCGA Cosmic COSV5743
- Ensembl rs2106729139
- Uncertain significance
- not specified
- Missense
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Structural context available
- SETD2 WW domain domainome 1.0: score -0.194