P118T (p.Pro118Thr) variant of ANKRD1 (Q15327)
P118T (p.Pro118Thr) in ANKRD1 (Q15327) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
P118T (p.Pro118Thr) variant details
- p.Pro118Thr
- gnomAD rs1382512098
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.307
- REVEL 0.12
- CADD 21.70
- PolyPhen-2 0.02
- SIFT 0.22
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available