M110V (p.Met110Val) variant of PCDH19 (Protocadherin-19)
M110V (p.Met110Val) in PCDH19 (Protocadherin-19) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Developmental and epileptic encephalopathy, 9; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
M110V (p.Met110Val) variant details
- p.Met110Val
- rs1057520139
- ClinGen CA16603275
- ClinVar RCV000438972
- ClinVar RCV005090699
- Uncertain significance
- Developmental and epileptic encephalopathy, 9; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.274
- REVEL 0.10
- CADD 20.20
- PolyPhen-2 0.04
- SIFT 0.13
- ClinVar: Uncertain significance (Developmental and epileptic encephalopathy, 9; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.8e-05)
- Structural context available