P45S (p.Pro45Ser) variant of TECRL (Q5HYJ1)
P45S (p.Pro45Ser) in TECRL (Q5HYJ1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of Cardiovascular phenotype; not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
P45S (p.Pro45Ser) variant details
- p.Pro45Ser
- rs61744866
- ClinGen CA2935689
- ClinVar RCV001693779
- ClinVar RCV002386501
- Benign/Likely benign
- Cardiovascular phenotype; not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.168
- REVEL 0.07
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 14.90
- PolyPhen-2 0.19
- SIFT 0.14
- ClinVar: Benign/Likely benign (Cardiovascular phenotype; not specified; not provided)
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:YORUBA population (allele frequency 0.24)
- Structural context available