D48Y (p.Asp48Tyr) variant of PDCD1 (Programmed cell death protein 1)
D48Y (p.Asp48Tyr) in PDCD1 (Programmed cell death protein 1) 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 and structural context.
D48Y (p.Asp48Tyr) variant details
- p.Asp48Tyr
- Ensembl rs1218751742
- Missense
- Variant Prioritization Score for Impact Estimate 0.165
- REVEL 0.05
- MetaLR 0.05
- MetaSVM -1.05
- CADD 13.40
- PolyPhen-2 0.38
- SIFT 0.03
- Most common in the Latino/Admixed American population (allele frequency 2.3e-05)
- Structural context available