V29L (p.Val29Leu) variant of PCDH19 (Protocadherin-19)
V29L (p.Val29Leu) in PCDH19 (Protocadherin-19) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
V29L (p.Val29Leu) variant details
- p.Val29Leu
- gnomAD rs1270264066
- Missense
- Variant Prioritization Score for Impact Estimate 0.349
- REVEL 0.23
- CADD 22.50
- PolyPhen-2 0.27
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 2.9e-05)
- Structural context available