A17T (p.Ala17Thr) variant of SLC34A3 (Q8N130)
A17T (p.Ala17Thr) in SLC34A3 (Q8N130) 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 0.12 / 1. The record also includes population frequency data and structural context.
A17T (p.Ala17Thr) variant details
- p.Ala17Thr
- rs757872964
- NCI-TCGA Cosmic COSV1007
- cosmic curated COSV10074
- ExAC rs757872964
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.119
- MetaLR 0.03
- MetaSVM -0.99
- CADD 0.06
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available