A69P (p.Ala69Pro) variant of CBS (Cystathionine beta-synthase)
A69P (p.Ala69Pro) in CBS (Cystathionine beta-synthase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes experimental measurements, published literature, and structural context.
A69P (p.Ala69Pro) variant details
- p.Ala69Pro
- rs17849313
- UniProt VAR 046922
- Ensembl rs17849313
- Missense
- Variant Prioritization Score for Impact Estimate 0.466
- ESM-1b 0.00
- AlphaMissense 0.07
- MetaLR 0.80
- MetaSVM 0.59
- SIFT 0.95
- MutPred 0.09
- Structural context available
- CBS low-B6 imputed and refined: score 0.0621
- Cited in: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID 15489334)