P26A (p.Pro26Ala) variant of KMT2D (O14686)
P26A (p.Pro26Ala) in KMT2D (O14686) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
P26A (p.Pro26Ala) variant details
- p.Pro26Ala
- Ensembl rs2120716281
- Missense
- Variant Prioritization Score for Impact Estimate 0.326
- REVEL 0.36
- MetaLR 0.19
- MetaSVM -0.90
- CADD 13.70
- PolyPhen-2 0.00
- SIFT 0.32
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available