I418T (p.Ile418Thr) variant of ERBB3 (P21860)
I418T (p.Ile418Thr) in ERBB3 (P21860) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Lethal congenital contracture syndrome 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data and structural context.
I418T (p.Ile418Thr) variant details
- p.Ile418Thr
- rs141230043
- ClinGen CA6622232
- cosmic curated COSV99916
- ClinVar RCV001257435
- Likely pathogenic
- Lethal congenital contracture syndrome 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.823
- REVEL 0.95
- CADD 26.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Lethal congenital contracture syndrome 2)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the African/African-American population (allele frequency 7.2e-05)
- Structural context available