A21T (p.Ala21Thr) variant of KMT2D (O14686)
A21T (p.Ala21Thr) in KMT2D (O14686) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
A21T (p.Ala21Thr) variant details
- p.Ala21Thr
- Ensembl rs2120716451
- Missense
- Variant Prioritization Score for Impact Estimate 0.321
- REVEL 0.31
- MetaLR 0.26
- MetaSVM -0.79
- CADD 18.00
- PolyPhen-2 0.02
- SIFT 0.02
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available