W43R (p.Trp43Arg) variant of CBS (Cystathionine beta-synthase)
W43R (p.Trp43Arg) in CBS (Cystathionine beta-synthase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes experimental measurements and structural context.
W43R (p.Trp43Arg) variant details
- p.Trp43Arg
- cosmic curated COSV61442
- Missense
- Variant Prioritization Score for Impact Estimate 0.197
- ESM-1b 0.00
- AlphaMissense 0.80
- Structural context available
- CBS low-B6: score 0