L34P (p.Leu34Pro) variant of PCDH15 (Protocadherin-15)
L34P (p.Leu34Pro) 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 0.58 / 1. The record also includes population frequency data.
L34P (p.Leu34Pro) variant details
- p.Leu34Pro
- NCI-TCGA Cosmic COSV5732
- cosmic curated COSV57321
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.584
- MetaLR 0.48
- MetaSVM -0.06
- CADD 28.00
- PolyPhen-2 1.00
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 2.3e-05)