I129V (p.Ile129Val) variant of HAVCR2 (Q8TDQ0)
I129V (p.Ile129Val) in HAVCR2 (Q8TDQ0) 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 0.10 / 1. The record also includes population frequency data.
I129V (p.Ile129Val) variant details
- p.Ile129Val
- rs2480412154
- ClinGen CA361953835
- ClinVar RCV004103120
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.0999
- REVEL 0.04
- CADD 14.80
- PolyPhen-2 0.04
- SIFT 0.14
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)