H10Y (p.His10Tyr) variant of CA2 (Carbonic anhydrase 2)
H10Y (p.His10Tyr) in CA2 (Carbonic anhydrase 2) 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 0.18 / 1. The record also includes population frequency data and structural context.
H10Y (p.His10Tyr) variant details
- p.His10Tyr
- rs1192862419
- gnomAD rs1192862419
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.184
- REVEL 0.07
- MetaLR 0.19
- MetaSVM -0.88
- CADD 22.20
- PolyPhen-2 0.00
- SIFT 0.03
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available