V35M (p.Val35Met) variant of SETD2 (Q9BYW2)
V35M (p.Val35Met) 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 available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, experimental measurements, and structural context.
V35M (p.Val35Met) variant details
- p.Val35Met
- gnomAD rs868820087
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.472
- REVEL 0.33
- CADD 24.20
- PolyPhen-2 0.52
- SIFT 0.01
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 3e-05)
- Structural context available
- SETD2 WW domain domainome 1.0: score -0.489