R12C (p.Arg12Cys) variant of TECRL (Q5HYJ1)
R12C (p.Arg12Cys) in TECRL (Q5HYJ1) 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 0.32 / 1. The record also includes population frequency data and structural context.
R12C (p.Arg12Cys) variant details
- p.Arg12Cys
- rs779934093
- NCI-TCGA Cosmic COSV6708
- cosmic curated COSV67086
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.317
- REVEL 0.08
- ESM-1b 0.00
- AlphaMissense 0.14
- CADD 18.30
- PolyPhen-2 0.00
- SIFT 0.13
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available