L72V (p.Leu72Val) variant of PKD1 (Polycystin-1)
L72V (p.Leu72Val) in PKD1 (Polycystin-1) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
L72V (p.Leu72Val) variant details
- p.Leu72Val
- 1000Genomes rs972113626
- gnomAD rs972113626
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.405
- REVEL 0.38
- MetaLR 0.84
- MetaSVM 0.33
- CADD 19.10
- PolyPhen-2 0.00
- SIFT 0.01
- EBI: Benign
- UniProt: Benign
- Most common in the South Asian population (allele frequency 0.00011)
- Structural context available