P42S (p.Pro42Ser) variant of HAVCR2 (Q8TDQ0)
P42S (p.Pro42Ser) in HAVCR2 (Q8TDQ0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data.
P42S (p.Pro42Ser) variant details
- p.Pro42Ser
- cosmic curated COSV57152
- gnomAD rs1757261319
- Missense
- Variant Prioritization Score for Impact Estimate 0.17
- REVEL 0.07
- CADD 9.45
- PolyPhen-2 0.34
- SIFT 0.07
- Most common in the South Asian population (allele frequency 0.00021)