P88L (p.Pro88Leu) variant of CBS (Cystathionine beta-synthase)
P88L (p.Pro88Leu) in CBS (Cystathionine beta-synthase) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact in the context of in CBSD. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, experimental measurements, and structural context.
P88L (p.Pro88Leu) variant details
- p.Pro88Leu
- NCI-TCGA Cosmic COSV6144
- cosmic curated COSV61442
- Variant assessed as somatic; moderate impact.
- in CBSD
- Missense
- Variant Prioritization Score for Impact Estimate 0.877
- REVEL 0.96
- ESM-1b 1.00
- AlphaMissense 0.66
- CADD 26.60
- PolyPhen-2 1.00
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact. (in CBSD)
- Population evidence available
- Structural context available
- CBS high-B6: score 0.277