A40T (p.Ala40Thr) variant of ALPL (P05186)
A40T (p.Ala40Thr) in ALPL (P05186) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes structural context.
A40T (p.Ala40Thr) variant details
- p.Ala40Thr
- rs1455153945
- ClinGen CA338877546
- NCI-TCGA Cosmic COSV6638
- cosmic curated COSV66380
- Likely pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.671
- AlphaMissense 0.28
- MetaLR 0.78
- MetaSVM 0.44
- PolyPhen-2 0.95
- SIFT 0.03
- MutPred 0.51
- ClinVar: Likely pathogenic (not provided)
- EBI: Likely pathogenic (in HOPS)
- UniProt: Likely pathogenic (in HOPS)
- Structural context available