L414V (p.Leu414Val) variant of ALPL (P05186)
L414V (p.Leu414Val) in ALPL (P05186) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Semidominant ALPL-related disorders; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes structural context.
L414V (p.Leu414Val) variant details
- p.Leu414Val
- rs2148192444
- ClinGen CA338881761
- ClinVar RCV003023984
- Likely pathogenic
- Semidominant ALPL-related disorders; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.652
- AlphaMissense 0.20
- MetaLR 0.91
- MetaSVM 0.95
- PolyPhen-2 1.00
- SIFT 0.07
- EVE 0.20
- ClinVar: Likely pathogenic (Semidominant ALPL-related disorders; not provided)
- EBI: Likely pathogenic (in HOPS)
- UniProt: Likely pathogenic (in HOPS)
- Structural context available