S21F (p.Ser21Phe) variant of HAVCR2 (Q8TDQ0)
S21F (p.Ser21Phe) 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 0.32 / 1. The record also includes population frequency data.
S21F (p.Ser21Phe) variant details
- p.Ser21Phe
- NCI-TCGA Cosmic COSV1003
- cosmic curated COSV10032
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.321
- REVEL 0.08
- CADD 22.90
- PolyPhen-2 0.99
- SIFT 0.01
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)