V44I (p.Val44Ile) variant of PCDH15 (Protocadherin-15)
V44I (p.Val44Ile) in PCDH15 (Protocadherin-15) 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 0.53 / 1. The record also includes population frequency data.
V44I (p.Val44Ile) variant details
- p.Val44Ile
- NCI-TCGA Cosmic COSV5739
- cosmic curated COSV57393
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.531
- MetaLR 0.19
- MetaSVM -0.73
- CADD 22.40
- PolyPhen-2 0.41
- SIFT 0.01
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 1.2e-05)