P49R (p.Pro49Arg) variant of KMT2D (O14686)
P49R (p.Pro49Arg) in KMT2D (O14686) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
P49R (p.Pro49Arg) variant details
- p.Pro49Arg
- gnomAD rs1447372379
- Missense
- Variant Prioritization Score for Impact Estimate 0.296
- REVEL 0.26
- MetaLR 0.22
- MetaSVM -0.82
- CADD 13.20
- PolyPhen-2 0.05
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available