K82E (p.Lys82Glu) variant of CBS (Cystathionine beta-synthase)
K82E (p.Lys82Glu) in CBS (Cystathionine beta-synthase) 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, experimental measurements, and structural context.
K82E (p.Lys82Glu) variant details
- p.Lys82Glu
- gnomAD rs1983113767
- Missense
- Variant Prioritization Score for Impact Estimate 0.303
- REVEL 0.33
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 14.00
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 5.4e-05)
- Structural context available
- CBS low-B6 imputed and refined: score 0.337