H195Y (p.His195Tyr) variant of ACE2 (Angiotensin-converting enzyme 2)
H195Y (p.His195Tyr) in ACE2 (Angiotensin-converting enzyme 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 0.14 / 1. The record also includes population frequency data and structural context.
H195Y (p.His195Tyr) variant details
- p.His195Tyr
- rs764661406
- NCI-TCGA Cosmic COSV5302
- cosmic curated COSV53024
- ExAC rs764661406
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.136
- REVEL 0.07
- CADD 16.30
- PolyPhen-2 0.33
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available