P62L (p.Pro62Leu) variant of KMT2D (O14686)
P62L (p.Pro62Leu) in KMT2D (O14686) 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 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
P62L (p.Pro62Leu) variant details
- p.Pro62Leu
- rs371342351
- ClinGen CA6548774
- ClinVar RCV000578142
- ClinVar RCV003753126
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.301
- REVEL 0.19
- MetaLR 0.24
- MetaSVM -0.70
- CADD 22.70
- PolyPhen-2 0.00
- SIFT 0.09
- EBI: Benign
- UniProt: Benign
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available
- Cited in: Kabuki Syndrome. (PMID 21882399)