V39G (p.Val39Gly) variant of SETD5 (Q9C0A6)
V39G (p.Val39Gly) in SETD5 (Q9C0A6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of SETD5-related syndromic intellectual disability. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes structural context.
V39G (p.Val39Gly) variant details
- p.Val39Gly
- rs1575376916
- ClinGen CA351681313
- ClinVar RCV001563602
- Ensembl rs1575376916
- Uncertain significance
- SETD5-related syndromic intellectual disability
- Missense
- Variant Prioritization Score for Impact Estimate 0.557
- AlphaMissense 0.19
- MetaLR 0.66
- MetaSVM 0.34
- PolyPhen-2 0.70
- SIFT 0.09
- EVE 0.28
- ClinVar: Uncertain significance (SETD5-related syndromic intellectual disability)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available