A28V (p.Ala28Val) variant of HAVCR2 (Q8TDQ0)
A28V (p.Ala28Val) in HAVCR2 (Q8TDQ0) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data.
A28V (p.Ala28Val) variant details
- p.Ala28Val
- rs147605860
- ClinGen CA3532006
- cosmic curated COSV57154
- ClinVar RCV004212621
- Likely benign
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.0683
- REVEL 0.07
- CADD 0.01
- PolyPhen-2 0.00
- SIFT 0.47
- ClinVar: Likely benign (not specified)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:ITU population (allele frequency 0.0049)