K119T (p.Lys119Thr) variant of CBS (Cystathionine beta-synthase)
K119T (p.Lys119Thr) 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, published literature, and structural context.
K119T (p.Lys119Thr) variant details
- p.Lys119Thr
- rs757998757
- gnomAD 21-43055898-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.255
- REVEL 0.16
- ESM-1b 1.00
- AlphaMissense 0.98
- CADD 11.20
- Population evidence available
- Structural context available
- CBS low-B6 imputed and refined: score 0.0355
- Literature evidence available