I61V (p.Ile61Val) variant of SETD5 (Q9C0A6)
I61V (p.Ile61Val) in SETD5 (Q9C0A6) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
I61V (p.Ile61Val) variant details
- p.Ile61Val
- NCI-TCGA Cosmic COSV5671
- cosmic curated COSV56710
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.397
- REVEL 0.27
- MetaLR 0.50
- MetaSVM -0.28
- CADD 20.00
- PolyPhen-2 0.03
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available