P88L (p.Pro88Leu) variant of ADCY5 (Adenylate cyclase type 5)
P88L (p.Pro88Leu) in ADCY5 (Adenylate cyclase type 5) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
P88L (p.Pro88Leu) variant details
- p.Pro88Leu
- NCI-TCGA Cosmic COSV1015
- Ensembl rs1945866257
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.385
- REVEL 0.21
- MetaLR 0.26
- MetaSVM -0.65
- CADD 20.10
- PolyPhen-2 0.03
- SIFT 0.02
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.3e-05)
- Structural context available