K82N (p.Lys82Asn) variant of CBS (Cystathionine beta-synthase)
K82N (p.Lys82Asn) in CBS (Cystathionine beta-synthase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, experimental measurements, and structural context.
K82N (p.Lys82Asn) variant details
- p.Lys82Asn
- ExAC rs71322504
- gnomAD rs71322504
- Missense
- Variant Prioritization Score for Impact Estimate 0.25
- REVEL 0.22
- ESM-1b 0.00
- AlphaMissense 0.16
- CADD 17.90
- PolyPhen-2 0.01
- SIFT 0.17
- Population evidence available
- Structural context available
- CBS low-B6 imputed and refined: score 0.337