A14T (p.Ala14Thr) variant of C2CD2L (O14523)
A14T (p.Ala14Thr) in C2CD2L (O14523) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
A14T (p.Ala14Thr) variant details
- p.Ala14Thr
- ExAC rs376665407
- TOPMed rs376665407
- gnomAD rs376665407
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.243
- REVEL 0.07
- ESM-1b 0.00
- AlphaMissense 0.17
- CADD 23.60
- PolyPhen-2 0.72
- SIFT 0.10
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00062)
- Structural context available