P99L (p.Pro99Leu) variant of EYA1 (Protein phosphatase EYA1)
P99L (p.Pro99Leu) in EYA1 (Protein phosphatase EYA1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Melnick-Fraser syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data and structural context.
P99L (p.Pro99Leu) variant details
- p.Pro99Leu
- rs763005068
- ClinGen CA371468673
- ClinVar RCV003325079
- ClinVar RCV003759820
- Conflicting interpretations
- not provided; Melnick-Fraser syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.674
- REVEL 0.59
- MetaLR 0.67
- MetaSVM 0.45
- CADD 26.80
- PolyPhen-2 0.95
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (not provided; Melnick-Fraser syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available