P18R (p.Pro18Arg) variant of ERBB2 (P04626)
P18R (p.Pro18Arg) in ERBB2 (P04626) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
P18R (p.Pro18Arg) variant details
- p.Pro18Arg
- Ensembl rs2145269487
- Missense
- Variant Prioritization Score for Impact Estimate 0.384
- REVEL 0.29
- CADD 21.50
- PolyPhen-2 0.08
- SIFT 0.36
- Most common in the South Asian population (allele frequency 1.5e-05)
- Structural context available