I2S (p.Ile2Ser) variant of AGTR1 (Type-1 angiotensin II receptor)
I2S (p.Ile2Ser) in AGTR1 (Type-1 angiotensin II receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
I2S (p.Ile2Ser) variant details
- p.Ile2Ser
- ExAC rs779475784
- TOPMed rs779475784
- gnomAD rs779475784
- Missense
- Variant Prioritization Score for Impact Estimate 0.189
- REVEL 0.11
- CADD 14.70
- PolyPhen-2 0.00
- SIFT 0.09
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available