D102N (p.Asp102Asn) variant of SLC22A2 (O15244)
D102N (p.Asp102Asn) in SLC22A2 (O15244) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data and structural context.
D102N (p.Asp102Asn) variant details
- p.Asp102Asn
- rs778603640
- NCI-TCGA Cosmic COSV6526
- cosmic curated COSV65265
- ExAC rs778603640
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.0741
- REVEL 0.09
- CADD 1.02
- PolyPhen-2 0.01
- SIFT 0.13
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available