V11I (p.Val11Ile) variant of PDCD1 (Programmed cell death protein 1)
V11I (p.Val11Ile) in PDCD1 (Programmed cell death protein 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data and structural context.
V11I (p.Val11Ile) variant details
- p.Val11Ile
- rs142544044
- ClinGen CA2223466
- ClinVar RCV004210277
- ESP rs142544044
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.0837
- REVEL 0.05
- MetaLR 0.11
- MetaSVM -1.05
- CADD 0.00
- PolyPhen-2 0.03
- SIFT 0.37
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 0.002)
- Structural context available