L21S (p.Leu21Ser) variant of MYPN (Myopalladin)
L21S (p.Leu21Ser) in MYPN (Myopalladin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
L21S (p.Leu21Ser) variant details
- p.Leu21Ser
- gnomAD 10-68121500-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.41
- REVEL 0.26
- CADD 23.00
- PolyPhen-2 0.42
- SIFT 0.06
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available