K72N (p.Lys72Asn) variant of CBS (Cystathionine beta-synthase)
K72N (p.Lys72Asn) in CBS (Cystathionine beta-synthase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, experimental measurements, and structural context.
K72N (p.Lys72Asn) variant details
- p.Lys72Asn
- Ensembl rs1983118913
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.164
- REVEL 0.22
- ESM-1b 0.00
- AlphaMissense 0.12
- CADD 2.04
- PolyPhen-2 0.00
- SIFT 0.25
- ClinVar: Uncertain significance (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available
- CBS low-B6: score 0.006