A43P (p.Ala43Pro) variant of HAVCR2 (Q8TDQ0)
A43P (p.Ala43Pro) 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 0.07 / 1. The record also includes population frequency data.
A43P (p.Ala43Pro) variant details
- p.Ala43Pro
- rs763316244
- ClinGen CA3531998
- ClinVar RCV004399269
- ExAC rs763316244
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.0666
- REVEL 0.06
- CADD 0.00
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 5e-05)