S13L (p.Ser13Leu) variant of KMT2D (O14686)
S13L (p.Ser13Leu) in KMT2D (O14686) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
S13L (p.Ser13Leu) variant details
- p.Ser13Leu
- Ensembl rs2120718294
- Missense
- Variant Prioritization Score for Impact Estimate 0.538
- REVEL 0.35
- MetaLR 0.52
- MetaSVM 0.20
- CADD 31.00
- PolyPhen-2 0.81
- SIFT 0.00
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available