S10L (p.Ser10Leu) variant of TECRL (Q5HYJ1)
S10L (p.Ser10Leu) in TECRL (Q5HYJ1) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
S10L (p.Ser10Leu) variant details
- p.Ser10Leu
- rs887668463
- NCI-TCGA Cosmic COSV6708
- cosmic curated COSV67085
- TOPMed rs887668463
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.248
- REVEL 0.07
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 22.00
- PolyPhen-2 0.10
- SIFT 0.08
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00033)
- Structural context available