T40K (p.Thr40Lys) variant of SLC25A20 (O43772)
T40K (p.Thr40Lys) in SLC25A20 (O43772) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data and structural context.
T40K (p.Thr40Lys) variant details
- p.Thr40Lys
- gnomAD rs1330560403
- Missense
- Variant Prioritization Score for Impact Estimate 0.829
- REVEL 0.90
- MetaLR 0.67
- MetaSVM 0.51
- CADD 27.20
- PolyPhen-2 0.99
- SIFT 0.05
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available