P74S (p.Pro74Ser) variant of CBS (Cystathionine beta-synthase)
P74S (p.Pro74Ser) in CBS (Cystathionine beta-synthase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, experimental measurements, and structural context.
P74S (p.Pro74Ser) variant details
- p.Pro74Ser
- gnomAD rs1170538361
- Missense
- Variant Prioritization Score for Impact Estimate 0.41
- REVEL 0.38
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 20.50
- PolyPhen-2 0.01
- SIFT 0.08
- Population evidence available
- Structural context available
- CBS low-B6 imputed and refined: score 0.731