V12D (p.Val12Asp) variant of TSLP (Thymic stromal lymphopoietin)
V12D (p.Val12Asp) in TSLP (Thymic stromal lymphopoietin) is a missense change. Clinical records from ClinVar, EBI, 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 0.27 / 1. The record also includes population frequency data and structural context.
V12D (p.Val12Asp) variant details
- p.Val12Asp
- rs777564341
- ClinGen CA3364870
- ClinVar RCV004335757
- ExAC rs777564341
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.275
- REVEL 0.32
- CADD 21.80
- PolyPhen-2 0.11
- SIFT 0.01
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available