G8S (p.Gly8Ser) variant of KMT2D (O14686)
G8S (p.Gly8Ser) in KMT2D (O14686) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
G8S (p.Gly8Ser) variant details
- p.Gly8Ser
- Ensembl rs2120718475
- Missense
- Variant Prioritization Score for Impact Estimate 0.47
- REVEL 0.34
- MetaLR 0.23
- MetaSVM -0.81
- CADD 21.30
- PolyPhen-2 0.01
- SIFT 0.39
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available