L633P (p.Leu633Pro) variant of RET (P07949)
L633P (p.Leu633Pro) in RET (P07949) is a missense change. Clinical records from ClinVar and UniProt describe it as likely pathogenic in the context of Hirschsprung disease, susceptibility to, 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
L633P (p.Leu633Pro) variant details
- p.Leu633Pro
- Ensembl rs2132844396
- Likely pathogenic
- Hirschsprung disease, susceptibility to, 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.554
- REVEL 0.56
- CADD 25.20
- PolyPhen-2 0.55
- SIFT 0.12
- ClinVar: Likely pathogenic (Hirschsprung disease, susceptibility to, 1)
- UniProt: Likely pathogenic
- Most common in the 1KG:GIH population (allele frequency 0.0053)
- Structural context available