S37L (p.Ser37Leu) variant of TECRL (Q5HYJ1)
S37L (p.Ser37Leu) 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 0.40 / 1. The record also includes population frequency data and structural context.
S37L (p.Ser37Leu) variant details
- p.Ser37Leu
- rs1461388254
- NCI-TCGA Cosmic COSV6708
- cosmic curated COSV67087
- gnomAD rs1461388254
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.398
- REVEL 0.22
- ESM-1b 0.00
- AlphaMissense 0.19
- CADD 25.40
- PolyPhen-2 0.99
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the East Asian population (allele frequency 2.9e-05)
- Structural context available