P113A (p.Pro113Ala) variant of TECRL (Q5HYJ1)
P113A (p.Pro113Ala) 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 0.27 / 1. The record also includes population frequency data and structural context.
P113A (p.Pro113Ala) variant details
- p.Pro113Ala
- NCI-TCGA Cosmic COSV1011
- cosmic curated COSV10116
- TOPMed rs2085611729
- gnomAD rs2085611729
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.273
- REVEL 0.07
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 8.74
- PolyPhen-2 0.01
- SIFT 0.06
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available