S22L (p.Ser22Leu) variant of HAVCR2 (Q8TDQ0)
S22L (p.Ser22Leu) in HAVCR2 (Q8TDQ0) 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 0.07 / 1. The record also includes population frequency data.
S22L (p.Ser22Leu) variant details
- p.Ser22Leu
- NCI-TCGA Cosmic COSV1003
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.0685
- REVEL 0.03
- CADD 5.00
- PolyPhen-2 0.00
- SIFT 0.53
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)